Coenzyme Q10 deficiency disease is a rare health problem where the body does not have enough coenzyme Q10 (also called CoQ10 or ubiquinone). CoQ10 is a natural substance in almost every cell. It helps mitochondria, the “power stations” of the cells, to make energy and also protects cells from damage by acting as an antioxidant. When CoQ10 is low, cells cannot make enough energy, and many organs can stop working well, especially the brain, muscles, kidneys, and heart.
Coenzyme Q10 (CoQ10) deficiency disease is a rare mitochondrial disorder where the body cannot make or maintain enough coenzyme Q10, a key molecule that helps cells turn food into energy and also protects them from oxidative damage.[1][2] In this disease, the tiny “power stations” in cells (mitochondria) do not work properly, so muscles, brain, heart, kidneys and other organs can slowly become weak or damaged.[1][3] Doctors divide CoQ10 deficiency into primary (due to mutations in genes that build CoQ10) and secondary (due to other diseases or medicines that lower CoQ10 levels), and early diagnosis plus high-dose CoQ10 treatment can sometimes prevent serious disability.[1][2][4]
Doctors usually talk about two big groups: primary CoQ10 deficiency, caused by changes in genes that build CoQ10, and secondary CoQ10 deficiency, where another disease, medicine, or condition lowers CoQ10 levels. Primary forms are often more severe and may start in babies or young children.
Other names
Coenzyme Q10 deficiency disease has several other names in medical books. Common names include primary coenzyme Q10 deficiency, ubiquinone deficiency, primary CoQ10 deficiency syndrome, and hereditary CoQ10 deficiency. These names all mean that the person’s body cannot keep normal CoQ10 levels, mostly because of problems in genes that control CoQ10 production.
Doctors also use type numbers when a specific gene is known. For example, CoQ10 deficiency, primary 1, 2, 3, and so on, depending on which CoQ10 gene is affected. Each type number usually matches a different gene, such as COQ2, PDSS2, COQ6, COQ8A, or COQ9. These genetic types can have slightly different common symptoms, but there is a lot of overlap.
A simple way to group the disease is:
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Primary (genetic) CoQ10 deficiency – due to changes in CoQ10-making genes.
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Secondary CoQ10 deficiency – due to other diseases or medicines that lower CoQ10 levels in the body.
Types of coenzyme Q10 deficiency disease
Primary CoQ10 deficiency does not look the same in every person. Doctors describe several main clinical “types” or patterns. These patterns are based on which organs are most affected.
1. Encephalomyopathy type
In this type, both the brain and muscles are mainly affected. The word “encephalo” means brain and “myopathy” means muscle disease. Children may have muscle weakness, exercise intolerance, seizures, and developmental delay. They may be slow to sit, stand, or walk. Blood tests and muscle biopsy often show signs of mitochondrial disease, and CoQ10 levels in muscle are low.
2. Severe infantile multisystem disease
This type starts very early, often in newborn babies. Many organs are involved at the same time, such as the brain, heart, kidneys, and muscles. Babies may have poor feeding, failure to grow, low muscle tone, breathing problems, and heart or kidney failure. Without early diagnosis and CoQ10 treatment, this form can be life-threatening.
3. Nephropathy (kidney type)
In the kidney type, the main problem is in the kidneys. Children can develop nephrotic syndrome, where the kidneys leak protein into the urine. They may have swelling of the legs, face, and belly because of fluid build-up. Over time, kidney function can worsen and may reach kidney failure if the disease is not treated. Sometimes there are also brain symptoms, hearing loss, or movement problems.
4. Cerebellar ataxia type
Here, the cerebellum, a part of the brain that controls balance and movement, is mainly affected. Children or adults may develop ataxia, which means poor balance and clumsy, shaky movements. They can have difficulty walking straight, standing without support, or doing precise hand tasks. Speech may become slurred, and eye movements can be abnormal.
5. Isolated myopathy type
In this type, symptoms are mostly in the muscles. People feel muscle weakness, tiredness, and pain, especially during exercise. They may not keep up with others in sports or daily activities and can develop cramps or dark urine after hard exercise. The heart and brain may be normal or only mildly affected.
6. Mixed or overlapping types
Some patients do not fit neatly into one group. They may have a mix of brain, muscle, kidney, and heart symptoms. For example, a child might have ataxia, seizures, kidney problems, and hearing loss at the same time. Doctors then call this a mixed or overlapping phenotype, but the cause is still low CoQ10 in tissues.
Causes of coenzyme Q10 deficiency disease
Most causes of CoQ10 deficiency disease are related to genes, but many other medical conditions can also lower CoQ10 levels.
1. Mutations in the COQ2 gene
COQ2 is one of the main genes needed to build CoQ10 in the mitochondria. Harmful changes (mutations) in both copies of COQ2 can block CoQ10 production, leading to primary CoQ10 deficiency with kidney disease, brain problems, or heart issues.
2. Mutations in PDSS1 or PDSS2 genes
PDSS1 and PDSS2 help make the long tail of the CoQ10 molecule. Mutations in these genes reduce CoQ10 levels in many tissues and can cause Leigh-like brain disease, muscle weakness, and kidney problems in children.
3. Mutations in COQ6 gene
COQ6 mutations are a known cause of primary CoQ10 deficiency with early kidney disease (steroid-resistant nephrotic syndrome) and hearing loss. Children may have heavy protein loss in urine, swelling, and later kidney failure if not treated with CoQ10.
4. Mutations in COQ8A (also called ADCK3 or CABC1)
Changes in COQ8A often cause the cerebellar ataxia type of CoQ10 deficiency. People can develop progressive balance problems and sometimes seizures or learning difficulties. The gene seems important for controlling the CoQ10-making complex inside mitochondria.
5. Mutations in COQ9 gene
COQ9 helps stabilize the complex of proteins that build CoQ10. Mutations can lead to severe infantile forms with seizures, developmental delay, brain atrophy, and sometimes heart disease. These children often have very low CoQ10 in tissues.
6. Mutations in other COQ genes (COQ3, COQ4, COQ5, COQ7, COQ8B, and others)
Many other COQ genes are part of the CoQ10 pathway. Harmful variants in any of them can lower CoQ10 levels in mitochondria. The exact symptoms depend on which tissues are most sensitive, but often include brain, muscle, kidney, and heart problems.
7. Mutations in still-unknown CoQ10 pathway genes
Researchers think there are more genes linked to CoQ10 production that are not fully known yet. In some families, patients clearly have low tissue CoQ10 and matching symptoms, but genetic testing does not find changes in known COQ genes. This suggests additional, yet-unidentified genes are also involved.
8. Mitochondrial DNA (mtDNA) depletion syndromes
Some diseases cause a large drop in the number of mitochondrial DNA copies in cells. When mtDNA content is low, mitochondrial function is poor, and this can secondarily reduce CoQ10 content and disturb the respiratory chain. Patients may show muscle weakness, liver problems, or brain disease with low CoQ10.
9. Disorders of fatty acid β-oxidation
Diseases that affect the breakdown of fatty acids in mitochondria can also lower CoQ10 levels. The exact mechanism is not fully clear, but the stress on the respiratory chain and changes in lipid metabolism may reduce CoQ10 content in tissues.
10. Other primary mitochondrial respiratory chain defects
In some mitochondrial diseases, the main defect is in another respiratory chain complex, not in CoQ10. However, the abnormal respiratory chain can secondarily reduce CoQ10 levels, adding to the energy production problem in muscle and brain cells.
11. Statin therapy (cholesterol-lowering drugs)
Statins block an early step in cholesterol production. This same pathway is also used to make CoQ10. In some patients, long-term statin use can reduce CoQ10 levels and cause muscle pain or weakness, which is considered a form of secondary CoQ10 deficiency.
12. Other lipid-lowering or mitochondrial-toxic drugs
Some other medicines that affect lipid metabolism or damage mitochondria may also lower CoQ10 levels. Examples include certain fibrates and some older chemotherapy agents. These drugs can worsen muscle symptoms in people who already have borderline CoQ10 levels.
13. Poor dietary intake of CoQ10 and its building blocks
CoQ10 is partly made by the body and partly taken in from food sources such as meat, fish, and whole grains. Very poor diets, extreme calorie restriction, or long-term malnutrition can lower CoQ10 levels, although diet alone is rarely the only cause of severe deficiency.
14. Malabsorption disorders (such as celiac disease or inflammatory bowel disease)
In diseases that damage the gut lining, nutrients and fat-soluble substances are not absorbed well. Because CoQ10 is fat-soluble, malabsorption can lead to low blood CoQ10 levels and add to weakness and fatigue in these patients.
15. Chronic kidney disease and nephrotic syndrome
Long-term kidney disease and heavy protein loss in urine can change lipid and antioxidant balance in the body. Studies suggest these conditions may reduce CoQ10 levels in blood and tissues, possibly making kidney and heart damage worse.
16. Chronic heart failure and cardiomyopathy
People with chronic heart failure or certain cardiomyopathies often have lower CoQ10 levels in heart muscle. The failing heart needs more energy, but the damaged mitochondria plus low CoQ10 worsen the energy shortage and symptoms such as fatigue and shortness of breath.
17. Neurodegenerative diseases (for example, Parkinson disease)
In some brain diseases like Parkinson disease, CoQ10 levels in certain brain regions can be reduced. The combination of oxidative stress and mitochondrial dysfunction may lower CoQ10 and contribute to neuron injury, though this is usually called secondary deficiency.
18. Chronic systemic inflammation and severe infections
Long-lasting inflammation or serious infections put stress on mitochondria and increase use of antioxidants. This extra demand may lower CoQ10 stores in tissues, especially if nutrition is also poor, and can worsen weakness and recovery.
19. Normal ageing
CoQ10 levels in tissues tend to fall slowly with age. Older adults may therefore have lower CoQ10 in heart and muscle compared with younger people. In most older people this drop is mild, but in some it may contribute to tiredness or reduced exercise capacity.
20. Combination of genetic risk and environmental factors
In many patients, more than one factor is present. A person might have a mild COQ gene variant plus a poor diet or take a medicine that further reduces CoQ10. Together, these factors push CoQ10 levels low enough to cause symptoms.
Symptoms of coenzyme Q10 deficiency disease
Symptoms can be very different from one patient to another, even inside the same family. They depend on which organs are most affected and how early the disease starts.
1. Muscle weakness
Many patients have weak muscles, especially in the legs and hips. They may have trouble climbing stairs, standing from the floor, or carrying heavy objects. Muscle weakness happens because the muscle cells cannot make enough energy in their mitochondria.
2. Easy tiredness and exercise intolerance
People often feel very tired after only mild activity. Walking a short distance or doing simple chores may cause exhaustion or muscle pain. This is called exercise intolerance and is common in mitochondrial and CoQ10 deficiency diseases.
3. Low muscle tone (hypotonia)
Babies and children with CoQ10 deficiency may feel “floppy” when lifted. This low muscle tone is called hypotonia. It makes it hard for them to hold up their head, sit, crawl, or walk at the usual age.
4. Seizures
Some patients have seizures, which are sudden bursts of abnormal electrical activity in the brain. Seizures may look like shaking, staring spells, or loss of awareness. They occur because brain cells are very sensitive to low energy levels.
5. Developmental delay and learning problems
Children can reach milestones, such as speaking or walking, later than usual. School-age children may struggle with learning and memory. Severe cases can have intellectual disability. These problems reflect long-term energy shortage in the developing brain.
6. Movement and balance problems (ataxia)
Ataxia means poor coordination and unsteady movement. People with cerebellar involvement may walk with a wide-based, wobbly gait, fall easily, or have trouble with tasks that require precise hand control.
7. Abnormal muscle movements (dystonia or spasticity)
Some patients have twisting or stiff movements because of damage to parts of the brain that control muscles. Dystonia causes abnormal postures, while spasticity causes tight, stiff muscles that resist movement.
8. Vision problems and retinopathy
CoQ10 deficiency can damage the retina, the light-sensitive layer at the back of the eye. Patients may develop blurry vision, reduced night vision, or progressive vision loss. An eye exam may show retinal atrophy or pigment changes.
9. Hearing loss (sensorineural)
Some patients develop hearing loss when the inner ear or hearing nerve is affected. This type of hearing loss is called sensorineural hearing loss and may worsen over time. It often appears together with kidney disease in certain genetic forms such as COQ6 deficiency.
10. Kidney problems and swelling (nephrotic syndrome)
When the kidneys are involved, large amounts of protein leak into the urine. This leads to swelling in the legs, face, or belly and sometimes high blood pressure. Without treatment, kidney function can slowly worsen and reach kidney failure.
11. Heart problems (cardiomyopathy and heart failure)
The heart is a high-energy organ. Low CoQ10 can weaken heart muscle and cause cardiomyopathy. Patients may feel short of breath, have swelling in the legs, or feel heartbeats that are too fast or irregular.
12. Poor growth and failure to thrive
Babies with severe CoQ10 deficiency may not gain weight or grow as expected. They may feed poorly, vomit often, or tire easily while feeding. Doctors call this “failure to thrive.”
13. Headaches and migraines
Some patients have frequent headaches or migraine-like episodes. These may be due to energy problems in brain cells and changes in blood flow in the brain.
14. Lactic acidosis-related symptoms
When mitochondria cannot work well, the body makes more lactic acid. High lactic acid levels in the blood can cause fast breathing, vomiting, and general sickness, especially during infections or stress.
15. Progressive worsening without treatment
If CoQ10 deficiency is not recognized and treated, neurological and kidney symptoms often worsen over time. Damage to tissues such as the brain or kidneys can become permanent, which is why early diagnosis and treatment are very important.
Diagnostic tests for coenzyme Q10 deficiency disease
Doctors use a mix of physical exams, manual bedside tests, laboratory and pathology studies, electrodiagnostic tests, and imaging to diagnose CoQ10 deficiency and to look for organ damage.
1. Full physical and neurological examination
The doctor checks height, weight, blood pressure, heart and lung sounds, and looks for swelling or abnormal movements. A detailed neurological exam looks at strength, reflexes, balance, and sensation. This helps decide which organs are affected and whether a mitochondrial or CoQ10-related disease is likely.
2. Muscle tone and reflex assessment
The doctor gently moves the arms and legs to see if the muscles are floppy or stiff and taps tendons to test reflexes. Low tone and reduced reflexes suggest muscle or nerve involvement, while very brisk reflexes may point to brain or spinal cord damage.
3. Gait and balance observation
Watching how a person stands and walks gives important clues. In CoQ10 deficiency with ataxia, patients may have a wide-based, unsteady gait and sway when standing with feet together. These signs suggest cerebellar or sensory problems.
4. Eye and retinal examination with ophthalmoscope
An eye doctor can look directly at the retina using a light and lens. In CoQ10 deficiency, they may see pallor or thinning of the optic nerve or changes in the retina that match retinopathy. This exam links visual symptoms to possible mitochondrial disease.
5. Romberg test
In the Romberg test, the patient stands with feet together, first with eyes open, then closed. If balance is much worse with eyes closed, it suggests problems with the cerebellum or sensory pathways, which can be seen in CoQ10 deficiency with ataxia.
6. Finger-to-nose and heel-to-shin tests (manual bedside tests)
These simple tests check coordination. The patient is asked to touch their nose and then the examiner’s finger, or slide a heel down the opposite shin. Overshoot, shaking, or missing the target are signs of cerebellar ataxia, often present in CoQ10-related disorders.
7. Manual muscle strength grading (manual test)
Doctors push against different muscle groups and ask the patient to resist. They score strength on a standard scale (often 0–5). Symmetric, slowly progressive weakness, especially in the hips and shoulders, supports a myopathy or mitochondrial disease such as CoQ10 deficiency.
8. Blood lactate and pyruvate levels (lab test)
A blood sample can measure lactic acid and pyruvate. High lactate suggests mitochondrial dysfunction but is not specific. Some patients with CoQ10 deficiency have normal lactate, so a normal result does not rule out the disease.
9. Creatine kinase (CK) level (lab test)
CK is an enzyme released when muscle cells are damaged. In CoQ10 deficiency with myopathy, CK may be moderately raised, but in mainly ataxic forms it can be normal. So CK helps but cannot confirm the diagnosis alone.
10. Basic metabolic panel and liver/kidney function tests (lab tests)
Blood tests for electrolytes, liver enzymes, and kidney function show how organs are working. Abnormal urea, creatinine, or liver enzymes can point to kidney or liver involvement in CoQ10 deficiency and guide further tests.
11. Urine analysis and protein quantification (lab test)
Urine tests can detect protein, blood, and other changes. Large amounts of protein in urine suggest nephrotic syndrome. In children with early nephrotic syndrome and other signs like hearing loss or neurological symptoms, doctors may suspect a genetic CoQ10 deficiency.
12. Plasma CoQ10 measurement (lab test)
CoQ10 levels can be measured in blood using high-performance liquid chromatography (HPLC). A low plasma value supports the diagnosis but can be influenced by diet and lipids. It is useful as a screening test, but tissue levels are more reliable.
13. Muscle CoQ10 content measurement (lab/pathological test)
Measuring CoQ10 in a muscle biopsy is considered one of the best ways to confirm CoQ10 deficiency. The sample is analyzed with HPLC. Levels below about 50% of normal controls usually mean primary CoQ10 deficiency rather than just low blood levels.
14. Muscle biopsy histology and respiratory chain enzyme activity (lab/pathological tests)
In addition to CoQ10 content, the muscle biopsy can be stained and examined under a microscope. Tests can also measure the activity of mitochondrial respiratory chain complexes. These results help show how severely mitochondria are affected and may support a diagnosis of CoQ10-related disease.
15. Electroencephalogram (EEG) (electrodiagnostic test)
An EEG records electrical activity in the brain. In patients with seizures due to CoQ10 deficiency, EEG may show abnormal spikes or patterns. It helps classify seizure type, check severity, and monitor response to treatment.
16. Electromyography (EMG) (electrodiagnostic test)
EMG uses small needles in muscles to record electrical signals during rest and movement. In CoQ10 myopathy, EMG may show myopathic patterns, meaning the main problem lies in muscle fibers rather than the nerves. It helps distinguish muscle disease from nerve disease.
17. Nerve conduction studies (NCS) (electrodiagnostic test)
NCS measure how fast and how strongly signals travel along nerves. Most patients with CoQ10 deficiency have normal nerve conduction, but if there is neuropathy, these tests can detect it. They help give a full picture of neuromuscular involvement.
18. Brain MRI (imaging test)
Magnetic resonance imaging of the brain can show atrophy (shrinkage) of the cerebellum or other brain structures, white matter changes, or stroke-like lesions. These findings are common in CoQ10 deficiency with ataxia or encephalopathy and guide doctors toward a mitochondrial cause.
19. Kidney ultrasound (imaging test)
An ultrasound scan of the kidneys can show their size and structure. In CoQ10 deficiency with nephropathy, the kidneys may look normal early on, but later can become small or scarred. Ultrasound is painless and helps track kidney damage over time.
20. Echocardiogram (heart ultrasound) (imaging test)
An echocardiogram uses sound waves to create moving pictures of the heart. It can show thick or weak heart muscle and problems with pumping function or valves. In patients with suspected CoQ10-related cardiomyopathy, this test is key to checking heart involvement and guiding treatment.
Non-pharmacological treatments
1. Early specialist assessment and care plan
A detailed assessment by a metabolic or mitochondrial specialist team is the foundation of care. They review the child or adult’s movement, learning, heart, kidney and eye function, and then make a written care plan. This plan coordinates medicines, therapies, school support, and follow-up visits. Early planning helps to start CoQ10 and supportive care before there is severe, permanent organ damage.
2. Physiotherapy for muscle strength and mobility
Physiotherapy uses gentle stretching, balance work, and low-impact exercises to keep muscles strong and flexible. In CoQ10 deficiency, muscles can be weak and tire quickly, so the physiotherapist teaches safe ways to move, stand, and walk while saving energy. Regular sessions can delay contractures, reduce falls, and improve independence in daily activities like climbing stairs or getting out of a chair.
3. Occupational therapy for daily living skills
Occupational therapists help patients manage everyday tasks such as dressing, writing, feeding, bathing, and using technology. They may suggest adapted cutlery, writing tools, or bathroom aids to reduce strain and risk of falls. For children, they also work with schools to adjust classroom seating, homework, and exam conditions. This support reduces frustration and helps the person stay as independent as possible.
4. Speech and language therapy
If CoQ10 deficiency affects the muscles used for speech or swallowing, a speech and language therapist can teach exercises and strategies to make speech clearer and eating safer. They may suggest special positions for feeding, thickened liquids, or communication tools like picture boards. Early therapy can reduce choking risk and improve communication at home and school.
5. Low-intensity, paced aerobic exercise
Gentle, regular activity such as slow walking, cycling on a stationary bike, or aquatic therapy can improve stamina without over-stressing mitochondria. The key is “pacing”: short periods of exercise followed by rest. Over-exertion can worsen symptoms, but carefully planned activity can support heart and muscle health and improve mood. Exercise plans should be designed by therapists familiar with mitochondrial disease.
6. Energy conservation and activity pacing
People with CoQ10 deficiency often feel tired after small efforts. Occupational therapists teach energy-saving tricks, such as sitting for tasks, using trolleys instead of carrying heavy bags, and planning harder activities at the time of day when energy is best. Learning to say “no” to extra tasks and taking planned rest breaks can prevent “crash days” after doing too much.
7. Nutrition counselling and safe feeding support
A dietitian with experience in mitochondrial disease can adjust calories, protein, and fluids based on weight, growth, and organ function. They help avoid long fasting periods, which can stress mitochondria, and may suggest frequent small meals with complex carbohydrates and healthy fats. If swallowing is unsafe or weight gain is poor, they may recommend special formulas or tube feeding.
8. Avoidance of fasting and dehydration
Long periods without food or fluids can worsen lactic acidosis and energy failure in mitochondrial diseases. Families are often advised to avoid skipping meals, especially during illness, and to offer extra fluids and carbohydrates (like oral rehydration solutions) when the patient has fever, vomiting, or diarrhoea. This simple step can reduce hospital admissions for metabolic crises.
9. Infection prevention and vaccination
Because infections put extra stress on the body and can trigger regression, good hand hygiene, dental care, and routine vaccinations are very important. Inactivated vaccines are generally safe and protect against pneumonia, influenza, and other serious infections that could worsen heart or lung problems. Extra care is needed with live vaccines in severely immunocompromised patients, so vaccination plans should be checked with the specialist.
10. Psychological support and counselling
Living with a rare disease is stressful for patients and families. Access to psychologists, social workers, or counsellors can help people cope with uncertainty, disability, and genetic issues. Support may include stress-management techniques, coping skills for chronic illness, and help explaining the condition to siblings, teachers, and friends.
11. Special education and learning support
Some people with CoQ10 deficiency have learning difficulties or attention problems. Educational psychologists and teachers can create an individual education plan with small class adjustments, extra time in exams, and breaks during lessons. These changes reduce fatigue and allow the student to show their true abilities.
12. Vision and hearing rehabilitation
If the disease affects the eyes or ears, low-vision aids, glasses, tinted lenses, and hearing aids or cochlear implants can greatly improve communication and independence. Specialists in vision and hearing rehabilitation teach the patient how to use these devices and adapt at home and school.
13. Cardiac rehabilitation and monitoring
For patients with cardiomyopathy, structured cardiac rehabilitation programs with supervised exercise, education, and emotional support can improve quality of life. Regular heart scans and rhythm monitoring help doctors adjust medicines early if function worsens or if arrhythmias appear.
14. Respiratory physiotherapy and non-invasive ventilation
If breathing muscles are weak, respiratory physiotherapists can teach breathing exercises, cough-assist techniques, and airway clearance methods. Some patients may use non-invasive ventilation (such as BiPAP) at night to support breathing and reduce morning headaches or sleepiness from high carbon dioxide levels.
15. Genetic counselling for families
Genetic counsellors explain how CoQ10 deficiency is inherited, the chance that future children might be affected, and options such as carrier testing or prenatal diagnosis. This information helps families make informed reproductive choices and reduces guilt and confusion about why the disease occurred.
16. Emergency care plans
Many centres give patients an “emergency letter” that explains the diagnosis and gives instructions to hospital doctors about fluids, glucose, and drugs to avoid. Keeping this letter with the patient at all times can prevent delays or harmful treatments in emergencies.
17. Assistive devices for mobility
Walkers, wheelchairs, ankle-foot orthoses, and seating systems can be used to maintain mobility and reduce falls. Using a wheelchair does not mean “giving up”; it is a tool that saves energy for important activities like school, work, or social events. Proper fitting by a rehab team prevents pressure sores and pain.
18. Sleep hygiene and rest routines
Good sleep habits, like regular bedtimes, a dark quiet bedroom, and limiting screens before bed, are important for people with chronic fatigue. Poor sleep can worsen concentration, mood, and pain. Simple routines and sometimes behavioural sleep therapy can make a big difference.
19. Social support groups and patient organisations
Joining rare disease or mitochondrial disease support groups gives families a chance to share experiences, learn practical tips, and feel less alone. These groups often provide educational materials, advocacy, and help in finding specialist centres or clinical trials.
20. Palliative and supportive care when needed
For severe cases, palliative care teams can help manage pain, shortness of breath, feeding problems, and emotional distress. Their goal is not only end-of-life care but also improving comfort and quality of life at any stage of the illness.
Drug treatments
Important: Drug names and doses below are general information. Real doses and choices must always be decided by a doctor, especially in children or during pregnancy. Never start, stop, or change medicines on your own.
1. High-dose coenzyme Q10 (ubiquinone)
High-dose oral CoQ10 is the main “replacement” treatment in primary CoQ10 deficiency. Doctors often use doses around 15–30 mg per kg per day, split into several doses and taken with fat-containing food to improve absorption. The aim is to raise CoQ10 levels inside cells, support the mitochondrial energy chain, and act as an antioxidant. Clinical reports show benefit in many, but not all, patients.
2. Ubiquinol (reduced CoQ10)
Ubiquinol is the reduced, more water-dispersible form of CoQ10 and may have better absorption and stronger antioxidant effects in some tissues, especially the brain. Some case reports suggest that switching from ubiquinone to ubiquinol helps patients who did not respond well before, but strong comparative trials are still lacking. Specialists may choose the form based on individual response and tolerance.
3. Riboflavin (vitamin B2) high-dose therapy
Riboflavin is a vitamin that forms part of important mitochondrial enzymes. High-dose riboflavin is often included in “mitochondrial cocktails” and has shown benefit in some mitochondrial myopathies and enzyme defects. Typical doses are much higher than normal vitamin intake and require medical supervision. In CoQ10 deficiency, riboflavin may support remaining enzyme function and improve muscle strength.
4. L-carnitine (levocarnitine)
Carnitine helps transport fatty acids into mitochondria for energy production. Low carnitine is common in mitochondrial disorders, and supplementation can reduce fatigue and muscle pain in some patients. It may also improve heart function when deficiency is present. Because high doses can cause diarrhoea and a fishy body odour, dosing must be carefully adjusted by a clinician.
5. Thiamine (vitamin B1)
Thiamine is a cofactor for enzymes involved in carbohydrate metabolism and lactic acid handling. In some mitochondrial and metabolic diseases, high-dose thiamine improves energy use and reduces lactic acidosis. In CoQ10 deficiency, it is often part of the supportive nutrient package to help energy metabolism run more smoothly, especially during illness or surgery.
6. Alpha-lipoic acid
Alpha-lipoic acid is an antioxidant and cofactor for mitochondrial enzymes. In mitochondrial diseases, it is frequently combined with CoQ10, riboflavin, and carnitine to create a “cocktail” aimed at reducing oxidative stress and improving muscle performance. Evidence is modest and mostly from small studies, but it is widely used under specialist supervision.
7. Idebenone
Idebenone is a synthetic short-chain analogue of CoQ10 that can carry electrons in the mitochondrial chain and may cross into certain tissues more easily. It has been studied in several mitochondrial disorders, including Leber hereditary optic neuropathy, and has shown benefit in some patients, though results are mixed. In CoQ10 deficiency, idebenone is considered experimental and usually given in clinical trial settings, not as routine therapy.
8. Levetiracetam
Levetiracetam is an anti-seizure medicine often chosen in mitochondrial diseases because it has relatively few mitochondrial toxic effects compared with some older drugs. It helps stabilize brain electrical activity and reduce seizures, which are common in severe CoQ10 deficiency. Side effects can include tiredness, mood changes, and irritability, so behaviour should be monitored.
9. Lamotrigine
Lamotrigine is another anti-seizure drug that blocks certain sodium channels and reduces excessive firing of neurons. It is sometimes used when levetiracetam alone is not enough or is not tolerated. It must be started slowly to reduce the risk of serious skin rashes. Its relatively mild mitochondrial impact makes it a reasonable option in some patients with CoQ10 deficiency–related epilepsy.
10. Clobazam
Clobazam is a benzodiazepine used for difficult-to-control seizures, including myoclonic and generalized seizures seen in some mitochondrial diseases. It enhances the calming effect of GABA in the brain. Sedation, drooling, and tolerance with long-term use are possible, so doctors try to use the lowest effective dose and review need regularly.
11. Enalapril (ACE inhibitor)
Enalapril is an angiotensin-converting enzyme (ACE) inhibitor used to treat heart failure and high blood pressure. In CoQ10 deficiency with cardiomyopathy, ACE inhibitors reduce the workload on the heart and improve symptoms like breathlessness and swelling. Common side effects include cough, dizziness, and low blood pressure; blood tests monitor kidney function and potassium.
12. Carvedilol (beta-blocker)
Carvedilol blocks beta-adrenergic receptors and has antioxidant effects. It is widely used in heart failure to slow heart rate, improve pumping efficiency, and reduce mortality. In CoQ10-related cardiomyopathy, carvedilol may be part of standard heart failure therapy. It must be started at low doses and increased slowly to avoid worsening symptoms at the beginning.
13. Spironolactone (aldosterone antagonist)
Spironolactone blocks the hormone aldosterone, helping the body excrete salt and water while keeping potassium. In heart failure, it reduces hospitalizations and may improve survival. In CoQ10 deficiency with heart involvement, it is often combined with ACE inhibitors and diuretics. Blood potassium and kidney function must be checked regularly to avoid dangerous high potassium levels.
14. Furosemide (loop diuretic)
Furosemide is a strong diuretic that removes excess fluid from the body. It is used in patients with CoQ10-related heart or kidney problems who develop leg swelling, abdominal distension, or lung congestion. Because it can cause dehydration and low levels of sodium, potassium, and magnesium, doses must be adjusted individually and monitored carefully.
15. Sodium bicarbonate or citrate preparations
In patients with renal tubular dysfunction and metabolic acidosis, sodium bicarbonate or potassium citrate may be used to buffer excess acid. Correcting acidosis can improve growth, appetite, and bone health. Electrolytes must be monitored, especially potassium, and doses are adjusted based on blood gas results.
16. Erythropoiesis-stimulating agents (EPO) for severe anaemia
If CoQ10 deficiency leads to chronic kidney disease or bone marrow problems causing anaemia, erythropoiesis-stimulating agents may be used to increase red blood cell production. They can reduce fatigue and the need for transfusions but also carry risks like high blood pressure and blood clots, so they are used only when clearly needed.
17. Baclofen for spasticity
Baclofen is a muscle relaxant used to treat spasticity and stiffness. In CoQ10 deficiency with movement problems, it can help reduce painful muscle spasms and improve ease of care. Drowsiness and weakness are common side effects, so dosing must be individualized, and in some cases an implanted baclofen pump is considered.
18. Botulinum toxin injections
Botulinum toxin injections into over-active muscles can temporarily reduce focal spasticity or dystonia, making posture and movement easier. Effects last several months, and injections may be repeated. This treatment is done by specialists and is part of an overall rehab plan.
19. Proton pump inhibitors (for reflux and feeding problems)
Some patients have reflux, vomiting, or feeding difficulties. Proton pump inhibitors such as omeprazole reduce stomach acid and protect the oesophagus. They do not treat the underlying mitochondrial problem but can improve comfort and allow better nutrition. Long-term use should be reviewed regularly because of possible nutrient malabsorption.
20. Standard vaccines and infection-specific medicines
Routine vaccines and appropriate antibiotics or antivirals are critical drugs in this condition, because infections can rapidly worsen mitochondrial stress. Doctors choose agents that are effective but avoid those known to harm mitochondria where possible. Completion of immunization schedules is usually encouraged unless there is a specific contraindication.
Dietary molecular supplements
1. Coenzyme Q10 (as a supplement)
As well as being used like a medicine, CoQ10 is also a dietary supplement. It is fat-soluble and usually taken with meals that contain healthy fats, such as olive oil or nuts. The supplement aims to replace the missing CoQ10 in cells, support the mitochondrial electron transport chain, and reduce oxidative stress. Doses are usually much higher than in general wellness products.
2. Ubiquinol
Ubiquinol supplements provide the reduced form of CoQ10, which may be more easily absorbed and more active as an antioxidant. Some patients with primary CoQ10 deficiency are switched to ubiquinol when standard CoQ10 capsules do not seem to help enough. Experience is still limited, so doctors monitor symptoms and blood levels carefully.
3. Riboflavin (vitamin B2)
Riboflavin supplements at high doses serve as cofactors for mitochondrial flavoproteins. In the context of CoQ10 deficiency and other mitochondrial diseases, riboflavin may strengthen energy production and improve muscle function. Because high doses go far beyond normal dietary needs, they should be prescribed and monitored by a clinician.
4. L-carnitine
L-carnitine supplements support fatty acid transport into mitochondria. In CoQ10 deficiency, especially when blood levels of carnitine are low, supplementation can help reduce fatigue, muscle pain, and possibly some heart symptoms. Doses are divided through the day to reduce stomach upset.
5. Alpha-lipoic acid
Alpha-lipoic acid functions as an antioxidant and a cofactor for mitochondrial dehydrogenase complexes. In mitochondrial disease “cocktails”, it is intended to reduce oxidative damage and support enzyme activity. Some small studies suggest improved exercise tolerance when combined with CoQ10 and creatine.
6. Thiamine (vitamin B1)
Thiamine supplementation in higher-than-normal doses may help enzymes that process glucose and reduce lactic acid buildup. In mitochondrial disorders and some CoQ10 deficiency cases, it is part of the supportive nutrient plan and may be especially useful during illness, fasting risk, or surgery.
7. Niacin or NAD-precursor supplements
Niacin and related NAD-precursor supplements (such as nicotinamide) support the cell’s redox balance and energy metabolism. In theory, improving NAD levels can help mitochondrial enzymes work more efficiently. Clinical evidence in primary CoQ10 deficiency is still limited, so these supplements are usually considered experimental and used under specialist guidance.
8. Folinic acid
Folinic acid, an active form of folate, is sometimes added to mitochondrial cocktails. It supports DNA repair, red blood cell production, and certain brain metabolic pathways. While not specific for CoQ10 deficiency, it may help overall cellular health and is generally safe at prescribed doses.
9. Vitamin C
Vitamin C is a water-soluble antioxidant that helps protect cells from free radical damage and supports collagen production and immune function. In mitochondrial disease, it is often used as a supportive antioxidant alongside CoQ10 and vitamin E, although evidence is mostly from small or uncontrolled studies.
10. Vitamin E
Vitamin E is a fat-soluble antioxidant that stabilizes cell membranes and works together with CoQ10 to reduce lipid peroxidation. Supplementation may help protect heart and muscle cells from oxidative injury. Because very high doses can increase bleeding risk, dosing should be guided by a clinician.
Immune-boosting and regenerative / stem-cell–related medicine
Very important: At present there are no immune-booster or stem-cell drugs specifically approved for CoQ10 deficiency. The points below describe general or experimental approaches. They must only be considered by specialists, often in research settings.
1. Standard inactivated vaccines
Routine inactivated vaccines (for example against influenza and pneumococcus) are some of the most effective “immune-supporting” tools. They train the immune system to fight specific infections so that actual illnesses are milder or prevented. This reduces metabolic stress on mitochondria and lowers the risk of decompensation.
2. Immunoglobulin (IVIG) in selected patients
If a person with CoQ10 deficiency also has a separate antibody deficiency or very frequent serious infections, doctors may consider intravenous immunoglobulin (IVIG). This treatment gives pooled antibodies from many donors to support the immune response. It is not a standard treatment for CoQ10 deficiency itself and is used only when strong evidence of immune deficiency is present.
3. Granulocyte colony-stimulating factor (G-CSF) for severe neutropenia
If severe neutropenia (very low white blood cells) occurs from another cause in a patient with CoQ10 deficiency, G-CSF may be used to stimulate white cell production. This reduces the risk of life-threatening infections. It is not a routine therapy in CoQ10 deficiency and carries risks such as bone pain and, rarely, splenic problems.
4. Erythropoietin and related agents
As noted earlier, erythropoiesis-stimulating agents can support red blood cell production in severe anaemia from kidney disease or other causes. By improving oxygen delivery, they may indirectly support mitochondrial function in tissues. These agents are tightly regulated and used only under specialist care.
5. Experimental redox-modulating drugs (such as vatiquinone / related compounds)
Several experimental drugs that change cellular redox balance or mitochondrial signalling (often called redox-modulating agents) are being studied in mitochondrial diseases. They aim to protect cells from oxidative stress and improve energy production. Their safety and benefit in primary CoQ10 deficiency are not yet known, and they should only be used in controlled clinical trials.
6. Experimental stem-cell-based therapies
Research is exploring stem-cell approaches for some mitochondrial and metabolic disorders, such as gene-corrected stem cells that could repopulate affected tissues. For primary CoQ10 deficiency, this work is still at a very early stage. There are no approved stem-cell drugs for this disease, and unregulated stem-cell clinics should be avoided because of serious safety concerns.
Surgeries and procedures
1. Gastrostomy tube (feeding tube) placement
If swallowing is unsafe or weight gain is very poor, surgeons may place a gastrostomy tube directly into the stomach. This allows safe delivery of nutrition, fluids, and medicines without the risk of aspiration. The aim is not to cure the disease but to support growth, reduce hospital admissions, and make daily care easier for families.
2. Cardiac pacemaker or defibrillator implantation
In patients with serious rhythm problems or block in the heart’s electrical system, a pacemaker or implantable cardioverter-defibrillator (ICD) may be needed. These devices keep the heart beating regularly and can prevent sudden cardiac death. They are used when standard medicines do not fully control rhythm problems.
3. Heart transplantation
For a small number of patients with end-stage cardiomyopathy that does not respond to medicines and devices, heart transplantation may be considered. This is a major surgery with lifelong immunosuppression and risks, so careful selection by a transplant team is essential. Some transplanted patients with mitochondrial disease can achieve much better quality of life.
4. Orthopaedic surgery for severe contractures or scoliosis
If muscle weakness and spasticity lead to severe joint contractures or spinal curvature (scoliosis), orthopaedic surgery may be required to improve sitting balance, reduce pain, and make care easier. Surgery is usually combined with intensive physiotherapy before and after the operation.
5. Cochlear implant or other sensory implants
When hearing loss is severe and not helped enough by hearing aids, cochlear implants may restore some hearing and improve language and learning. Similar sensory implants or eye procedures may be used in selected cases to improve vision. These interventions do not treat the mitochondrial defect but can greatly enhance communication and independence.
Prevention and lifestyle tips
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Early diagnosis in at-risk families – If one child in a family has confirmed CoQ10 deficiency, genetic counselling and testing of siblings can allow early diagnosis and treatment before severe damage develops.
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Avoid long fasting and dehydration – Regular meals and extra fluids during illness help prevent metabolic crises and lactic acidosis.
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Prompt treatment of infections – Early medical review for fevers, chest infections, or urinary infections reduces stress on the body and lowers the risk of hospitalisation.
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Avoid clearly mitochondrial-toxic drugs where possible – Some medicines (for example, certain chemotherapy drugs and valproic acid in specific mitochondrial conditions) can worsen mitochondrial function; specialists provide personalised “avoid” lists.
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Regular follow-up with specialists – Ongoing reviews of heart, kidney, hearing, vision, and development allow early detection of new problems and treatment adjustments.
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Healthy weight maintenance – Both under-nutrition and significant obesity can strain the body; dietitians help plan balanced intake that matches energy needs.
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Safe exercise plan – Gentle, regular movement chosen with therapists helps maintain strength without over-exertion.
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Good sleep and stress management – Regular sleep routines and psychological support reduce stress hormones that can worsen fatigue and pain.
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Up-to-date vaccinations – Keeping vaccines current prevents serious infections that could trigger rapid decline.
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Participation in registries or research when appropriate – Joining research studies and patient registries helps advance understanding and future treatments for this very rare disease.
What to eat and what to avoid
1. Eat regular, balanced meals
Try to eat regular meals and snacks through the day with a mix of complex carbohydrates (whole grains), lean protein, and healthy fats. This gives a steady supply of energy to mitochondria and avoids big blood sugar swings that can worsen fatigue.
2. Include healthy fats
Healthy fats from olive oil, nuts, seeds, and oily fish help with absorption of fat-soluble nutrients like CoQ10 and vitamin E. They also provide a concentrated energy source, which is useful when appetite is low.
3. Eat enough high-quality protein
Protein from fish, eggs, dairy, beans, and lean meats supports muscle repair and growth. In CoQ10 deficiency, maintaining muscle mass is important because weak muscles tire easily and lose strength quickly during illness or inactivity.
4. Focus on fruits and vegetables
Colourful fruits and vegetables provide natural antioxidants, vitamins, and minerals that support general health and may help reduce oxidative stress in cells. Aim for a variety of colours across the week rather than focusing on a single “superfood.”
5. Stay well hydrated
Adequate water and appropriate oral rehydration drinks are vital, especially during hot weather, exercise, or illness. Good hydration supports kidney function and circulation, helping nutrients and medicines reach tissues.
6. Avoid long periods without food
Skipping meals or prolonged fasting can trigger metabolic stress and make symptoms worse. If appetite is low, smaller, more frequent snacks may be easier than three large meals. Families can plan easy, quick foods for times when the patient feels too tired to eat a full meal.
7. Limit very high-sugar, ultra-processed foods
Drinks and foods with lots of added sugar can cause quick energy spikes followed by crashes. Many ultra-processed snacks add calories without important nutrients. Swapping sugary drinks for water or milk and choosing whole foods helps long-term energy and weight control.
8. Avoid crash diets and extreme restriction
Very low-calorie or fad diets can be dangerous in mitochondrial disease because they increase catabolism (breaking down body tissues) and stress mitochondria. Weight management should always be guided by a clinician and dietitian, not by crash dieting or online trends.
9. Be careful with unproven “mega-dose” supplements
Some online sources promote very high doses of various supplements as cures for mitochondrial disease. These can interact with medicines, harm the liver or kidneys, or waste money without proven benefit. Any supplement, even “natural” ones, should be discussed with the medical team first.
10. Avoid alcohol and smoking (for adults)
In adults, alcohol and tobacco can worsen heart, liver, and muscle health and increase oxidative stress. Avoiding smoking and keeping alcohol intake very low or zero is especially important when mitochondria are already under strain.
When to see doctors
A person with known or suspected CoQ10 deficiency should see a doctor urgently if they develop new seizures, sudden loss of skills (like walking or speaking), severe headache, chest pain, shortness of breath, rapid swelling of legs or abdomen, very reduced urine output, or confusion. These signs can mean serious brain, heart, or kidney problems that need immediate treatment. Parents should also seek medical help quickly for high fevers, uncontrolled vomiting, or dehydration, because these stresses can trigger rapid decline in mitochondrial diseases. Regular scheduled visits with the mitochondrial team are also essential, even when things seem stable.
Frequently asked questions (FAQs)
1. Is coenzyme Q10 deficiency disease curable?
At present, there is no complete cure, because the underlying genetic changes cannot yet be fully corrected in routine care. However, high-dose CoQ10 and supportive treatments can improve symptoms and slow or partly reverse organ damage in many patients, especially when therapy begins early.
2. Is CoQ10 deficiency always inherited?
Most primary CoQ10 deficiency cases are inherited in an autosomal recessive way, meaning a child receives one faulty gene from each parent. Some secondary CoQ10 deficiencies are caused by other genes or by external factors like certain medicines, such as statins. Genetic testing helps clarify the exact cause in each family.
3. Can adults develop CoQ10 deficiency disease?
Yes. While many cases appear in infancy or childhood, some gene changes cause milder or later-onset disease, with symptoms like exercise intolerance, balance problems, or kidney disease appearing in adolescence or adulthood. Adults with unexplained neurological or kidney problems may be tested for CoQ10 deficiency.
4. How is the diagnosis confirmed?
Doctors combine clinical examination with blood tests, urine tests, brain and muscle imaging, sometimes muscle biopsy to measure CoQ10 in tissue, and genetic testing of CoQ10 synthesis genes. Modern next-generation sequencing has made genetic diagnosis much more accurate and faster.
5. Does every patient improve with CoQ10 supplements?
No. Many case reports describe clear improvement, especially when treatment starts early, but some patients show only partial or no response. The level of organ damage before treatment, the specific gene affected, and the dose and form of CoQ10 all seem to influence outcome.
6. How long does CoQ10 treatment need to continue?
In primary CoQ10 deficiency, CoQ10 replacement is usually lifelong, because the genetic problem in the biosynthesis pathway does not go away. Doctors may adjust the dose over time depending on age, weight, and response but generally do not stop treatment unless serious side effects occur.
7. Are there side effects from CoQ10?
CoQ10 is usually well tolerated. Some people have stomach upset, nausea, diarrhoea, or loss of appetite, especially at higher doses. Taking capsules with food and splitting the dose through the day can reduce these problems. Rarely, sleep disturbance has been reported.
8. Can “over-the-counter” CoQ10 products be used for this disease?
Most over-the-counter products contain much lower doses than those used in primary CoQ10 deficiency and may have variable quality or absorption. For a serious genetic disease, medically supervised, pharmaceutical-grade preparations are preferred, and the exact product and dose should be chosen by the specialist.
9. What is the difference between primary and secondary CoQ10 deficiency?
Primary CoQ10 deficiency comes from mutations in genes that directly build CoQ10. Secondary deficiency happens when other conditions, medicines, or metabolic problems lower CoQ10 levels indirectly. Treatment and prognosis can differ, so distinguishing the two types is important.
10. Can pregnancy be safe in women with CoQ10 deficiency?
Many women with milder forms of mitochondrial disease have successful pregnancies, but they require close monitoring by high-risk obstetricians and metabolic specialists. Energy demands are higher in pregnancy, and heart or kidney problems need careful watching, so pre-pregnancy counselling is essential.
11. Will all brothers and sisters be affected?
In autosomal recessive primary CoQ10 deficiency, each pregnancy has a 25% chance of an affected child, 50% chance of a carrier child, and 25% chance of a non-carrier. Siblings may therefore be unaffected, carriers, or affected. Genetic counselling and testing can clarify each person’s status.
12. Can lifestyle alone control this disease?
Healthy lifestyle habits, good nutrition, and therapies are very important, but they cannot replace CoQ10 in someone with a genetic biosynthesis defect. Lifestyle measures should be seen as strong support for, not a substitute for, medical therapy with CoQ10 and other treatments.
13. Are there promising new treatments?
Research is exploring better CoQ10 formulations, new redox-active drugs, gene-based therapies, and metabolic bypass strategies. Animal and early human studies are encouraging, but most options are not yet available as routine care. Joining clinical trials through specialist centres may be an option for some patients.
14. Is it safe to use statins in people with CoQ10 deficiency?
Statins lower cholesterol but also reduce CoQ10 production in the body, which can worsen muscle symptoms in susceptible people. In known CoQ10 deficiency, statin use needs very careful risk–benefit discussion, and alternative lipid-lowering strategies may be preferred.
15. What should families remember most?
Families should remember that early recognition, early CoQ10 replacement, regular specialist follow-up, and strong supportive care can make a big difference in outcomes. They are not alone: mitochondrial and rare disease organisations, genetic counsellors, and multidisciplinary teams are there to help them navigate everyday life and future planning.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: February 01, 2025.
