Acyl-CoA Dehydrogenase 9 (ACAD9) Deficiency

ACAD9 deficiency is a rare genetic disease. It affects tiny parts of the cell called mitochondria. Mitochondria make energy. ACAD9 is a protein that helps build “complex I,” which is the first step in the energy chain. When ACAD9 does not work, complex I cannot form well. Then cells cannot make enough energy. This harms organs that need constant energy, like the heart, muscles, and brain. Babies can get very sick early. Children and adults may have exercise intolerance, weakness, and learning problems. The disease is usually inherited in an autosomal recessive way. That means a child gets one faulty gene from each parent. Some patients improve with riboflavin (vitamin B2). MedlinePlusBioMed CentralOxford Academic

ACAD9 deficiency is a rare, inherited mitochondrial disease. The ACAD9 protein normally helps your cells build complex I, the first and largest protein machine of the mitochondrial energy chain. When ACAD9 does not work properly, complex I assembly is faulty, so cells cannot make enough energy. This low energy state especially harms the heart, brain, and muscles, which need constant fuel. Many patients develop cardiomyopathy, lactic acidosis, muscle weakness, exercise intolerance, or developmental problems. Severity can vary widely—from severe illness in infancy to milder weakness in youth or adulthood. Some people improve with riboflavin (vitamin B2) treatment, because riboflavin helps make FAD, a cofactor ACAD9 uses. ACAD9 also interacts with partner proteins (ECSIT and NDUFAF1) to form a core “MCIA” complex for complex I assembly. MedlinePlusPubMedNaturePMCBioMed Central

Other names

ACAD9 deficiency has several names in medical sources. It may be called “acyl-CoA dehydrogenase 9 deficiency,” “deficiency of acyl-CoA dehydrogenase family member 9,” or “mitochondrial complex I deficiency due to ACAD9.” These names describe the same problem: a lack or loss of normal ACAD9 function leading to weak assembly of mitochondrial complex I and poor energy production. You may also see it grouped under “nuclear forms of complex I deficiency” in genetics catalogs. Some descriptions focus on the main symptoms, like hypertrophic cardiomyopathy, encephalomyopathy, or lactic acidosis, but all refer to the same underlying gene defect in ACAD9. MedlinePlusOrpha

Types

Doctors sort ACAD9 deficiency into “types” by age at onset, main organs involved, and response to vitamins. These are not strict labels, but they help plan care and explain outcomes.

1) Neonatal-onset, severe systemic form.
This form starts in the first days or weeks of life. Babies can develop profound lactic acidosis, weak heart contraction or thick heart muscle (cardiomyopathy), breathing problems, and multi-organ failure. It is life-threatening without rapid support. PubMedOrpha

2) Infantile/early-childhood cardiomyopathic form.
Many children first show heart disease (often hypertrophic cardiomyopathy), poor feeding or growth, vomiting, and high lactate. Weakness and low muscle tone are common. With treatment and careful monitoring, some stabilize. BioMed CentralPMC

3) Childhood myopathic/exercise-intolerance form.
Some children mainly have exercise intolerance, easy fatigue, and muscle pain after activity. They may have mild or no heart disease. School performance can be affected by low energy. MedlinePlusScienceDirect

4) Adolescent/adult milder form.
A few people are diagnosed later, often with long-standing exercise intolerance, headaches after exertion, or subtle heart changes. They still need follow-up because problems can progress. BioMed Central

5) Riboflavin-responsive form.
Some patients improve when given riboflavin (vitamin B2). Riboflavin helps the ACAD9 protein bind its cofactor and may stabilize complex I assembly in certain variants. Doctors often try riboflavin early because the benefit can be meaningful and the risk is low. PubMedOxford Academic

6) Variant-based groups (mechanism).
Genetic studies show two broad mechanisms. Some ACAD9 variants mainly disrupt complex I assembly. Others impair both complex I assembly and long-chain fatty-acid oxidation, which tends to cause a more severe clinical picture. MedlinePlusPMC

Causes

ACAD9 deficiency has one primary cause: harmful variants (mutations) in the ACAD9 gene. The list below breaks that single root cause into detailed mechanisms and real-world triggers that create or worsen disease expression.

1. Biallelic pathogenic ACAD9 variants. A person must inherit two faulty copies—one from each parent (autosomal recessive). MedlinePlus

2. Missense variants that change a single amino acid and reduce ACAD9 stability or function. BioMed Central

3. Nonsense/frameshift variants that truncate the protein so it cannot assist complex I assembly. BioMed Central

4. Splice-site variants that disrupt normal RNA processing, lowering functional protein levels. BioMed Central

5. Defective binding to FAD (the vitamin B2-derived cofactor), making ACAD9 less active; riboflavin can sometimes help. PubMed

6. Failed interaction with MCIA partners (NDUFAF1, ECSIT) needed to build complex I. ScienceDirectPNAS

7. Collapse of complex I assembly, leading to low respiratory chain activity and poor ATP production. Cell

8. Secondary impairment of long-chain fatty-acid oxidation in some variants, adding energy stress in heart and muscle. MedlinePlusOxford Academic

9. High energy demand states (fever, intense exercise) exposing the energy shortfall. BioMed Central

10. Prolonged fasting, which increases reliance on fat oxidation and mitochondrial ATP; this can unmask or worsen symptoms. INFORM Network

11. Intercurrent infections, which raise metabolic needs and precipitate decompensation and lactic acidosis. INFORM Network

12. Dehydration and vomiting, reducing tissue perfusion and promoting acidosis. (General mitochondrial care guidance.) Orpha

13. Malnutrition or poor riboflavin intake, which may lower FAD and further weaken ACAD9 function. PubMed

14. Hypoxia (low oxygen), which stresses oxidative phosphorylation in already weak mitochondria. (Mechanistic.) Cell

15. Certain mitochondria-toxic drugs (e.g., valproate in susceptible patients) can worsen liver and mitochondrial stress. (General mitochondrial caution.) Orpha

16. Surgery/anesthesia stress, temporarily raising energy needs and risk of metabolic crises. (Mitochondrial disease practice.) Orpha

17. Genetic background (other variants that modify severity), explaining wide clinical ranges. BioMed Central

18. Consanguinity increases the chance of inheriting the same rare variant from both parents. (Autosomal recessive principle.) MedlinePlus

19. Rapid growth periods (infancy/childhood) when energy needs are high. (Observed early presentation.) BioMed Central

20. Coexisting organ stress (heart or liver disease from any cause) lowering reserve and revealing ACAD9-related energy failure. Orpha

Symptoms

1) Exercise intolerance.
Activity makes muscles tired very quickly. Children may avoid sports or need frequent rests. This reflects poor ATP supply during effort. MedlinePlusScienceDirect

2) General fatigue.
People feel low energy during daily tasks and after minor activities. MedlinePlus

3) Muscle weakness.
Arms and legs may feel weak. Climbing stairs or lifting objects can be hard. BioMed Central

4) Low muscle tone (hypotonia).
Babies may feel “floppy.” Older children may have poor posture. MedlinePlus

5) Developmental delay.
Sitting, walking, or speaking may come later than usual because the brain and muscles have low energy. MedlinePlus

6) Seizures (in some patients).
The brain is sensitive to energy failure. Seizures can occur, especially in more severe forms. MedlinePlus

7) Headaches after exertion.
Effort can trigger headache due to metabolic stress. (Reported in milder phenotypes.) ScienceDirect

8) Rapid breathing (tachypnea).
The body tries to blow off acid when lactate rises. Orpha

9) Vomiting and feeding problems.
These are common during metabolic stress and add to dehydration and acidosis. Orpha

10) Failure to thrive or poor growth.
Low energy and frequent illness can slow weight gain and height. babydetect.com

11) Heart problems (cardiomyopathy).
The heart muscle can become thick or weak, causing shortness of breath, swelling, or fainting. BioMed CentralPMC

12) Liver dysfunction.
Liver tests may rise. Severe cases can have liver failure during crises. Orpha

13) Movement problems or dystonia (some cases).
Abnormal movements can appear when the brain is affected. PMC

14) Intellectual disability (variable).
Learning can be affected in those who survive severe early disease. MedlinePlus

15) Reye-like episodes (rare).
Some patients have episodes with brain swelling, vomiting, and coma. This is rare but described. UniProt

Diagnostic tests

Doctors combine the story, the exam, lab tests, heart and brain studies, and genetic testing. The goal is to show complex I assembly problems, rule out other causes, and confirm pathogenic variants in ACAD9.

A) Physical examination

1) General exam for growth, hydration, and breathing effort.
Clinicians look for poor growth, dehydration, fast breathing, and signs of illness. These suggest energy failure or metabolic acidosis. Orpha

2) Neurologic exam for tone, strength, reflexes, and coordination.
Low tone, weakness, or abnormal reflexes point to muscle and nerve involvement. MedlinePlus

3) Cardiac exam for murmurs, gallops, and signs of heart failure.
Tachycardia, enlarged liver, or leg swelling can point to cardiomyopathy. BioMed Central

4) Hepatic exam for liver enlargement and tenderness.
An enlarged liver or jaundice may signal hepatic stress in crises. Orpha

B) Manual / bedside functional tests

5) Six-minute walk test.
Measures distance walked and symptoms. Poor performance with early fatigue supports exercise intolerance. BioMed Central

6) Handgrip dynamometry.
Simple measure of muscle power. Low or quickly dropping strength fits myopathic fatigue. BioMed Central

7) Gowers’ maneuver assessment.
Needing hands to push up from the floor suggests proximal weakness. Useful in clinic. BioMed Central

8) Orthostatic vitals during exertion recovery.
Heart rate and blood pressure response after light exercise can reflect limited reserve. BioMed Central

C) Laboratory and pathological tests

9) Serum lactate and pyruvate (± blood gas).
High lactate with or without acidosis suggests mitochondrial energy failure. Track during illness and after exertion. Orpha

10) Creatine kinase (CK) and liver panel.
CK shows muscle injury; AST/ALT and bilirubin show liver stress during crises. Orpha

11) Plasma acylcarnitine profile.
Often normal or mildly abnormal; in some variants, patterns suggest altered long-chain oxidations. Results must be read with caution. Oxford Academic

12) Urine organic acids.
May show nonspecific dicarboxylic acids during decompensation. Helps rule in/out other metabolic errors. Orpha

13) Respiratory chain enzyme studies in muscle or fibroblasts.
Reduced complex I activity supports a primary complex I assembly problem. PMC

14) Blue-Native PAGE (BN-PAGE) and immunoblot for complex I assembly.
Shows incomplete complex I assembly and disturbance of the MCIA complex (ACAD9/ECSIT/NDUFAF1). This is a strong mechanistic test in specialized labs. CellPNAS

D) Electrodiagnostic tests

15) Electrocardiogram (ECG).
Screens for arrhythmias, conduction problems, and strain from cardiomyopathy. Abnormalities guide urgent care. BioMed Central

16) Electroencephalogram (EEG).
Used when seizures or episodic encephalopathy occur. Helps evaluate brain involvement. MedlinePlus

17) Electromyography/nerve conduction studies (EMG/NCS).
May be used to characterize muscle weakness and exclude neuropathic causes. BioMed Central

E) Imaging tests

18) Echocardiography.
Key test to detect hypertrophic or dilated cardiomyopathy and assess function over time. BioMed Central

19) Cardiac MRI (when available).
Provides detailed heart structure, fibrosis, and function, useful for complex cases. BioMed Central

20) Brain MRI ± MR spectroscopy.
May show changes from mitochondrial disease and, occasionally, lactate peaks. Helps explain seizures or developmental delay. Orpha

Non-pharmacological treatments

Physiotherapy & rehab

1. Individualized energy-conserving exercise (aerobic + gentle resistance) to improve endurance without over-fatigue. Start low, go slow, monitor symptoms. SpringerLink

2. Physical therapy for posture and contracture prevention (stretching, range-of-motion). umdf.org

3. Respiratory therapy if weak cough or nocturnal symptoms; airway clearance as advised. umdf.org

4. Cardiac rehab-style activity pacing in older children/adults with stable cardiomyopathy. umdf.org

5. Speech-language therapy for swallowing safety and feeding strategies. umdf.org

6. Occupational therapy for fatigue management, adaptive tools, school/work ergonomics. umdf.org

7. Orthotics and mobility aids to reduce energy cost of walking and prevent falls. umdf.org

8. Scoliosis/orthopedic monitoring with early bracing or referral if needed. umdf.org

9. Nutritional therapy with a mito-experienced dietitian (frequent meals; sick-day plan). umdf.org

10. Sleep optimization (consistent schedule; treat sleep-disordered breathing). SpringerLink

11. Temperature/environment control (avoid overheating; plan rest in humid heat). SpringerLink

12. Illness protocol (“sick-day”): early fluids/glucose, avoid fasting, seek care promptly. PMC

13. Vaccination up to date to prevent infection-triggered decompensation. umdf.org

14. Cardiology follow-up at a center familiar with mitochondrial disease. umdf.org

15. Anesthesia planning (avoid prolonged propofol infusions; careful peri-op glucose and fluids). umdf.org

Mind-body, “gene-education,” and psychosocial supports

16. Patient/family education about ACAD9, triggers, and emergency letters. umdf.org

17. Fatigue-pacing & activity scheduling (spread tasks, planned rests). SpringerLink

18. Cognitive/learning supports (IEP/504 plans; therapy for delays). umdf.org

19. Psychological support for coping with chronic illness; anxiety and mood screening. umdf.org

20. Support groups / patient networks (education, adherence, resilience). SpringerLink

21. Breathing retraining & relaxation for dyspnea or anxiety in stable disease. SpringerLink

22. Gentle yoga/taiji focused on flexibility and balance (avoid exhaustion). SpringerLink

23. School/work accommodations (reduced PE intensity, rest passes, flexible schedules). umdf.org

24. Nutrition label literacy (recognize fasting risks; steady carbs/protein). umdf.org

25. Transition planning (pediatric-to-adult care handover with cardiology/genetics). umdf.org

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Drug treatments

Doses below are typical ranges used in mitochondrial medicine; clinicians adjust per age, weight, labs, comorbidities.

1. Riboflavin (Vitamin B2): cornerstone in ACAD9 deficiency; many patients improve clinically or in cells. Class: vitamin cofactor. Typical dose: often 10–50 mg/kg/day (divided), tailored; some reports use fixed adult totals. Purpose: enhance FAD-dependent steps and stabilize assembly factors. Mechanism: boosts FAD supply in mitochondria; some ACAD9 variants are “riboflavin-responsive.” Side effects: harmless yellow urine; high doses may cause GI upset. BioMed CentralPMC

2. Coenzyme Q10 (ubiquinone/ubiquinol): widely used mitochondrial cofactor. Class: electron carrier/antioxidant. Typical dose: 2–10 mg/kg/day (varies by formulation); higher doses sometimes used in trials. Purpose: support electron transport and antioxidant defense. Mechanism: shuttles electrons between complexes; scavenges ROS. Side effects: GI upset, rare insomnia. Evidence in primary mitochondrial disease is mixed but reasonable to consider. ClinicalTrialsPortland Press

3. L-carnitine: for documented deficiency or as adjunct. Class: carrier for long-chain acyl groups. Dose: 20–100 mg/kg/day in children; adult dosing often 330–990 mg per dose 2–3×/day (max ~3 g/day). Purpose: support fatty acid transport and buffer acyl load. Mechanism: forms acyl-carnitines to move fatty acids; may reduce toxic acyl build-up. Side effects: GI upset, fishy odor; monitor levels. Office of Dietary Supplements

4. Thiamine (Vitamin B1): general mito cofactor. Class: vitamin. Dose: commonly 10–40 mg/kg/day in pediatrics (or fixed adult doses); tailored. Purpose/Mechanism: supports pyruvate dehydrogenase and carbohydrate metabolism. Side effects: rare GI symptoms. PMC

5. Niacinamide / Nicotinamide riboside (Vitamin B3 family): NAD+ precursor. Class: vitamin/cofactor. Dose: variable; used in specialized care. Purpose: raise NAD+ pool to support dehydrogenases. Mechanism: fuels redox reactions in mitochondria. Side effects: flushing (with niacin), GI symptoms. SpringerLink

6. Alpha-lipoic acid: antioxidant cofactor. Class: antioxidant. Dose: adult fixed doses are used in practice; pediatric use individualized. Purpose: reduce oxidative stress. Mechanism: cofactor for mitochondrial dehydrogenases; antioxidant cycling. Side effects: GI upset; caution in hypoglycemia. mitocanada.org

7. Biotin (Vitamin B7): adjunct in some mitochondrial clinics. Class: vitamin. Dose: variable; individualized. Purpose/Mechanism: carboxylase cofactor; anecdotal benefits reported in ACAD9 cohorts. Side effects: minimal; can interfere with some lab tests. mediaTUM

8. Creatine monohydrate: energy buffer. Class: ergogenic/energy substrate. Dose: common adult regimens; pediatric tailored. Purpose: augment phosphocreatine buffer in muscle. Mechanism: rapid ATP regeneration. Side effects: GI upset, cramps. mitocanada.org

9. Ubiquinol (reduced CoQ10): alternative CoQ formulation with better bioavailability for some. Dose: similar mg/kg/day targets. Rationale/side effects: as above. mitocanada.org

10. Vitamin C + Vitamin E: antioxidant pair frequently included. Dose: fixed daily doses; clinician-guided. Purpose: reduce oxidative stress burden. Side effects: high-dose GI effects; vitamin E can affect bleeding risk. mitocanada.org

11. Folinic acid (when CSF/serum folate issues are identified): supports one-carbon metabolism. Dose: clinician-directed. Side effects: rare GI upset. PMC

12. Sodium pyruvate (selected case reports): substrate therapy; used under specialist care. Mechanism: anaplerosis and redox effects. Evidence: limited; individualized. ResearchGate

13. Bezafibrate (PPAR agonist) – experimental/selected cases: may upregulate FAO pathways; evidence in ACAD9 is limited and mixed. Use only in trials/specialist care. SciSpace

14. Elamipretide (SS-31) – investigational: mitochondria-targeted peptide aiming to improve inner-membrane function; access via trials. Side effects: injection-site reactions, headache. ResearchGate

15. KH176/sonlicromanol – investigational: redox modulator under study; not standard therapy. ResearchGate

Why the emphasis on riboflavin? ACAD9 is often riboflavin-sensitive—lab and clinical data show improved complex I activity and better survival in many treated patients, especially with early treatment—though not everyone responds. BioMed CentralPubMed

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Dietary “molecular” supplements

(These overlap with “drug” cofactors; listed here for clarity with function.)

1. Riboflavin – boosts FAD for ACAD9/complex I assembly; cornerstone in ACAD9. BioMed Central

2. CoQ10/ubiquinol – electron carrier; antioxidant; may support ETC flux. Portland Press

3. L-carnitine – shuttles fatty acids; buffers acyl groups; use when indicated. Office of Dietary Supplements

4. Thiamine (B1) – supports carbohydrate entry into mitochondria (PDH). PMC

5. Niacin/Nicotinamide riboside – raises NAD+ pool for redox reactions. SpringerLink

6. Alpha-lipoic acid – antioxidant and dehydrogenase cofactor. mitocanada.org

7. Vitamin C – antioxidant; supports redox balance alongside vitamin E. mitocanada.org

8. Vitamin E – lipid-phase antioxidant; membrane protection. mitocanada.org

9. Creatine – ATP buffer for muscle during bursts. mitocanada.org

10. Biotin – carboxylase cofactor; anecdotal benefit in ACAD9 series. mediaTUM

Dosing note: specific doses depend on age/weight and clinician guidance; see ranges above (e.g., L-carnitine 20–100 mg/kg/day; CoQ10 often 2–10 mg/kg/day; riboflavin commonly 10–50 mg/kg/day). Office of Dietary SupplementsClinicalTrialsPMC

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Immunity-booster / regenerative / stem-cell” drugs

There are no approved stem-cell or gene-editing drugs for ACAD9 deficiency today. But some supportive or investigational options can indirectly help immunity or cellular resilience:

1. Routine vaccinations (not a “drug” in the classic sense, but critical): reduce infection-triggered metabolic crashes. umdf.org

2. Immunoglobulin replacement (IVIG) – only for patients with proven immune dysfunction and recurrent infections; schedule individualized. umdf.org

3. Granulocyte colony-stimulating factor (G-CSF) – rarely, if a patient has significant neutropenia from another cause; specialist-directed. umdf.org

4. Elamipretide (investigational) – aims to improve mitochondrial inner-membrane performance; trial-based access. ResearchGate

5. KH176/sonlicromanol (investigational) – redox modulator; research setting. ResearchGate

6. Bezafibrate (experimental) – PPAR agonist explored in FAO/mito contexts; use only in expert centers or trials. SciSpace

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Surgeries

1. Pacemaker/ICD for significant conduction block or malignant arrhythmias in consultation with cardiology. umdf.org

2. Left-ventricular assist device (LVAD) or heart transplant in refractory end-stage cardiomyopathy (rare; case-by-case). umdf.org

3. Gastrostomy (G-tube) ± fundoplication for severe dysphagia/aspiration risk and to secure nutrition. umdf.org

4. Ptosis surgery for disabling eyelid droop affecting vision or corneal health. umdf.org

5. Orthopedic procedures (e.g., scoliosis correction, tendon release) to maintain function and comfort. umdf.org

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Preventions

1. Avoid fasting; use frequent meals and a written sick-day plan. PMC

2. Stay current on vaccines (flu, pneumococcal, others per schedule). umdf.org

3. Prompt care for infections (hydration, glucose support, monitor lactate). PMC

4. Regular cardiology checks (echo/ECG/Holter as advised). umdf.org

5. Medication review before new drugs; avoid prolonged propofol infusions; follow mitochondrial anesthesia guidance. umdf.org

6. Adequate sleep and stress control to lower energy drain. SpringerLink

7. Hydration and electrolyte balance especially during heat or illness. umdf.org

8. Dietitian-guided nutrition to maintain growth and prevent catabolism. umdf.org

9. Emergency letter/plan carried at all times. umdf.org

10. Regular vision and neuro checks (if symptoms). umdf.org

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When to see doctors urgently

• Breathing fast, extreme sleepiness, or vomiting during illness (possible lactic acidosis). MedlinePlus

• Signs of heart trouble: fainting, chest pain, new swelling, very fast heart rate, or poor feeding/grey color in infants. umdf.org

• Seizure, new weakness, or sudden vision loss. umdf.org

• Inability to keep fluids down or more than 8–12 hours without urine in young children. PMC

• Before surgery or anesthesia to create a safe peri-operative plan. umdf.org

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What to eat and what to avoid

1. Eat regularly (3 meals + 2–3 snacks; bedtime snack for children). Avoid long gaps. PMC

2. Illness plan: early oral rehydration solutions or glucose polymers as directed. PMC

3. Balanced plate: complex carbs + quality protein + fruits/vegetables; limit ultra-processed foods. umdf.org

4. Adequate protein to support muscle repair (dietitian-set targets). umdf.org

5. Avoid fad fasting/ketogenic diets unless a specialist prescribes them (can worsen lactic load in complex I defects). PMC

6. Hydrate well, more during heat/fever. umdf.org

7. Caffeine/alcohol moderation (individualized; alcohol can worsen myopathy). SpringerLink

8. Consider cofactor supplements (riboflavin, CoQ10, etc.) only under clinician guidance. mitocanada.org

9. Salt/potassium as advised in cardiomyopathy; follow cardiac diet if prescribed. umdf.org

10. Monitor weight and growth; schedule dietitian visits at least twice a year in children. umdf.org

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Frequently Asked Questions (FAQ)

1) Is ACAD9 a fatty-acid enzyme or a complex I factor?
Both ideas existed historically. Current evidence shows ACAD9 is primarily a complex I assembly factor, working with ECSIT and NDUFAF1, though studies suggest it can have a residual FAO role in some tissues. PubMed+1Nature

2) Why does the heart suffer so much?
The heart needs constant ATP. Complex I dysfunction limits ATP and raises oxidative stress, predisposing to cardiomyopathy. PMC

3) Why is lactate high?
When oxidative phosphorylation is weak, cells shunt pyruvate to lactate, causing lactic acidosis. MedlinePlus

4) Does riboflavin really help?
Many patients (especially with early diagnosis) show improvement or better survival with riboflavin, but not everyone responds. BioMed CentralPMC

5) What dose of riboflavin is used?
Clinics often use 10–50 mg/kg/day in divided doses; specialists individualize dosing. PMC

6) Are CoQ10 or carnitine useful?
They are frequently used mitochondrial supplements; evidence is mixed, but they can be reasonable under clinician guidance (with carnitine levels monitored). mitocanada.orgOffice of Dietary Supplements

7) Can adults present for the first time?
Yes—some present later with exercise intolerance or milder myopathy. PMC

8) Can vision be affected?
Rarely, optic neuropathy has been reported; some cases improved with riboflavin. ScienceDirect

9) Is pregnancy possible?
There are reports of successful pregnancies in women treated and monitored carefully. Wiley Online Library

10) What about bezafibrate or new drugs?
These are experimental; benefits are uncertain and should be limited to trials or expert centers. SciSpace

11) Will anesthesia be risky?
Mitochondrial disorders carry specific anesthesia considerations—avoid prolonged propofol infusions; ensure glucose and careful monitoring. Plan ahead with anesthesiology. umdf.org

12) Is gene therapy available?
No approved gene/stem-cell therapy exists yet for ACAD9; research is ongoing into redox modulators and mitochondrial-targeted agents. ResearchGate

13) What monitoring do I need?
Regular cardiology, nutrition/growth checks, and neurology/ophthalmology as indicated. umdf.org

14) Are there special diets?
The core rule is no fasting and balanced nutrition; specialty diets are not standard for complex I defects and can be harmful if misapplied. PMC

15) Where can I read an overview for families?
MedlinePlus Genetics and Orphanet provide accessible summaries on ACAD9. MedlinePlusOrpha

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: September 08, 2025.