Mannosyltransferase 1 deficiency is a rare, inherited metabolic disease. It affects the way the body builds sugar chains on proteins. These sugar chains are called N-linked glycans. They help many proteins fold, move, and work correctly. The disease happens when the ALG1 gene does not work well. This gene makes an enzyme called mannosyltransferase 1 (also written as β-1,4-mannosyltransferase). The enzyme adds the first mannose sugar to a growing sugar chain on a lipid carrier inside the cell. If this step is weak or missing, the whole chain builds wrongly. As a result, many proteins in the body do not get the right sugar coating. This hurts cells in many organs, especially the brain, liver, nerves, and muscles.
Mannosyltransferase-1 deficiency is a rare, inherited metabolic disease. Doctors also call it ALG1-congenital disorder of glycosylation (ALG1-CDG). It happens when changes (variants) in the ALG1 gene lower the activity of an enzyme called β-1,4-mannosyltransferase. This enzyme lives in the rough endoplasmic reticulum of our cells. Its job is to attach the first mannose sugar onto a growing sugar chain that will later be added to many proteins. This process is called N-linked glycosylation. When ALG1 does not work well, many proteins are not glycosylated properly. This affects many organs, especially the brain, muscles, liver, and sometimes the heart and blood system. ALG1-CDG is autosomal recessive, which means a child gets one non-working copy of ALG1 from each parent. Signs usually begin in infancy and range from severe to mild. There is no approved curative treatment yet; care is mostly supportive, with research treatments in progress. MedlinePlus+3PMC+3Nature+3
This condition belongs to a group called congenital disorders of glycosylation (CDG). It is passed down in an autosomal recessive way. That means a child must get one non-working ALG1 gene from each parent to be affected.
Other Names
ALG1-CDG (current, preferred name)
Congenital disorder of glycosylation due to ALG1
CDG type Ik (older name, used in past papers)
β-1,4-mannosyltransferase 1 deficiency
N-linked glycosylation defect, ALG1
Inside our cells, there is a step-by-step assembly line that builds a starting sugar tree called Glc₃Man₉GlcNAc₂ on a lipid called dolichol. The tree is then moved onto many new proteins.
ALG1 works very early in this line. It adds the first mannose to a small two-sugar base (two GlcNAc sugars) on dolichol. If ALG1 is weak or absent, the tree cannot grow well. The result is a shortage of normal sugar trees and a surplus of wrong ones. Proteins without the right trees are unstable and often fail at their jobs. This leads to multi-system disease.
Types
There is no strict official subtype list, but doctors often see patterns:
Severe early-infantile form
Starts in the first months of life. Strong muscle weakness, poor feeding, seizures, organ problems.Childhood-onset, multisystem form
Starts in early childhood. Developmental delay, seizures that may be hard to control, growth issues, liver or clotting problems.Attenuated (milder) form
Later milestones with milder learning issues, possible balance problems, and smaller organ involvement.Neurologic-dominant pattern
Seizures, low muscle tone, developmental delay, microcephaly (small head), vision or hearing issues.Hepato-intestinal pattern
Feeding problems, failure to thrive, liver enzyme elevation, low blood proteins, clotting problems.Peripheral nerve-dominant pattern
Sensory or motor neuropathy on nerve tests, weak or absent reflexes.
These patterns can overlap. Severity depends on how much ALG1 activity is left.
Causes
This disease has one root cause—faults in the ALG1 gene—but there are many ways that cause shows up and many factors that can worsen the condition. Each item below explains a mechanism or contributor in simple terms.
Biallelic pathogenic variants in ALG1
A child inherits one faulty copy from each carrier parent. This is the core cause.Missense variants
A single letter change in DNA changes one amino acid in the enzyme and lowers its activity.Nonsense variants
A “stop” signal appears too early and makes a short, nonfunctional enzyme.Frameshift variants
Small insertions or deletions shift the reading frame and break the enzyme.Splice-site variants
Changes at intron–exon borders cause wrong cutting and joining of the RNA, ruining the enzyme.Promoter or regulatory variants
Changes in switches that control ALG1 expression reduce how much enzyme is made.Large deletions or duplications of ALG1
Big missing or extra pieces in the gene prevent normal enzyme production.Compound heterozygosity
Two different harmful variants, one on each copy of ALG1, together cause disease.Founder variants in certain populations
Some communities share the same historical variant, raising local risk.Consanguinity (parents related by blood)
Increases the chance both parents carry the same rare variant.Maternal–paternal carrier status unknown
Lack of carrier screening allows two carriers to have an affected child unknowingly.Cell stress from fever or infection
Illness can worsen symptoms because stressed cells need even more properly glycosylated proteins.Poor nutrition
Illness-related malnutrition can aggravate growth failure and organ stress in an already fragile pathway.Liver dysfunction from other causes
Coexisting liver problems can intensify clotting issues and low blood proteins.Oxidative stress
Extra oxidative damage further harms folding and trafficking of under-glycosylated proteins.Coexisting deficiencies in other glycosylation steps
Rarely, variants in other CDG genes can coexist and worsen the picture.Medication stress
Some drugs increase metabolic demand or lower seizure threshold, worsening symptoms (choice of drugs matters).Surgery or anesthesia stress
Major stress can unmask weakness, clotting issues, and glucose swings.Dehydration or electrolyte imbalance
Can trigger seizures or worsen muscle tone and feeding problems.Delayed diagnosis
Without early supportive care, nutrition, and seizure control, complications accumulate.
Symptoms
Not every person has all symptoms. Severity varies.
Developmental delay
The child learns to sit, stand, talk, or walk later than peers because the brain’s proteins are not glycosylated correctly.Low muscle tone (hypotonia)
Babies feel “floppy.” Poor tone comes from brain and muscle involvement.Seizures
Electrical storms in the brain are common. They may start early and can be hard to control.Feeding problems and poor weight gain
Weak sucking, vomiting, reflux, or poor appetite cause failure to thrive.Microcephaly (small head size)
The head grows more slowly, reflecting brain growth issues.Liver problems
Elevated liver enzymes, low albumin, and low clotting factors are common because the liver makes most of these proteins.Abnormal blood clotting
Easy bruising or bleeding can occur due to low glycosylated clotting proteins.Peripheral neuropathy
Numbness, reduced reflexes, or weakness in limbs can develop as nerves are affected.Eye problems
Strabismus (crossed eyes), nystagmus (shaky eyes), optic nerve changes, or vision reduction can happen.Hearing loss
Sensorineural hearing loss may occur because inner-ear or nerve proteins are affected.Growth delay
Height and weight may lag because nutrition and hormones depend on properly glycosylated proteins.Gastrointestinal issues
Diarrhea, constipation, or protein-losing enteropathy may appear in some children.Facial or body features
Subtle facial differences, lip or palate issues, or limb features can be present in some cases.Infections
Some patients get frequent infections because parts of the immune system need correct glycosylation.Learning difficulties and behavior concerns
Attention problems, speech delay, or autistic features can appear due to brain involvement.
Diagnostic Tests
Doctors use a stepwise approach. They combine the exam, screening labs for glycosylation, and gene testing. They also check which organs are involved to guide care.
A) Physical Examination
General growth and nutrition check
Measures weight, height, and head size. Helps confirm failure to thrive or microcephaly.Neurologic exam
Looks at tone, strength, reflexes, coordination, and vision tracking. Supports the presence of hypotonia, seizures, or neuropathy.Dysmorphology assessment
A genetics-trained clinician checks subtle facial or limb patterns that suggest a glycosylation disorder.Liver and spleen palpation
Finds an enlarged liver or spleen that can accompany liver dysfunction or blood issues.Skin and bleeding signs
Checks for bruises, petechiae, or nosebleeds that point to clotting problems.
B) “Manual” Bedside Tests and Functional Assessments
Developmental screening tools
Simple, structured play and question sets (like milestone checklists) measure delays in motor, speech, and social skills.Feeding and swallow evaluation
Clinicians observe feeding and use bedside swallow tests to see if aspiration risk is present.Vision assessment
Bedside fixation and tracking tests, red reflex check, and referral for formal refraction and fundus exam if abnormal.Hearing screening
Newborn hearing tests or later bedside checks trigger formal audiology referral if concerns arise.Pain and neuropathy screens
Pinprick, vibration, and reflex testing at the bedside point to nerve involvement and guide electrodiagnostic testing.
C) Laboratory and Pathological Tests
Serum transferrin isoform analysis
This is the classic CDG screening test. It looks at the charge pattern of transferrin, a glycoprotein. A type I pattern suggests a problem in building the sugar tree early, which fits ALG1-CDG.N-glycan profiling by mass spectrometry
A specialized lab studies the detailed pattern of N-glycans in blood. Abnormal patterns support a CDG diagnosis and can hint at the step involved.Comprehensive genetic testing
ALG1 gene sequencing (single-gene, multi-gene CDG panel, or exome/genome) confirms the exact variants. This is the definitive test.Enzyme/functional assay in fibroblasts (where available)
A research or reference lab may measure mannosyltransferase activity or precursor accumulation. This functionally proves the defect.Liver function tests (ALT, AST, bilirubin, albumin)
Check liver injury and protein production. Low albumin and high enzymes are common.Coagulation tests (PT/INR, aPTT, specific factors)
Assess bleeding risk. Clotting factors may be low because their glycosylation is abnormal.Metabolic panel and glucose
Looks for dehydration, electrolyte problems, and blood sugar swings that can worsen seizures.Protein electrophoresis and immunoglobulins
Low total protein or immune protein changes can show protein loss or immune impact.
D) Electrodiagnostic Tests
Electroencephalogram (EEG)
Records brain waves. Confirms seizures and helps guide antiseizure therapy.Nerve conduction studies and electromyography (NCS/EMG)
Measure how fast nerves send signals and how muscles respond. Detects peripheral neuropathy.Electrocardiogram (ECG)
Screens for heart rhythm problems, which can occur in multi-system metabolic disease.Evoked potentials (visual or auditory)
Measure signal speed from the eye or ear to the brain. Help document visual or hearing pathway problems.
E) Imaging Tests
Brain MRI
Shows structure and myelination. May reveal under-developed regions, cerebellar changes, thin corpus callosum, or other patterns seen in CDG.Abdominal ultrasound
Looks at the liver and spleen for size and texture; checks for signs that match liver blood tests.Echocardiogram
Ultrasound of the heart checks muscle function and valves if symptoms suggest heart involvement.Skeletal survey or targeted X-rays (as needed)
Used if there are concerns about bone structure, hips, or spine posture due to hypotonia.
Non-pharmacological treatments (therapies and others)
These are supportive treatments. They improve function, safety, comfort, and development. They do not “cure” the enzyme defect, but they matter a lot for quality of life.
Physiotherapy (PT): builds strength and motor skills; reduces contractures; uses stretching, positioning, and task-practice. NCBI
Occupational therapy (OT): trains daily living skills and fine motor control; adapts tools and home setup. Metabolic Support UK
Speech-language therapy: supports communication; manages dysphagia to lower aspiration risk. Metabolic Support UK
Feeding therapy (SLP/OT/dietitian): pacing, textures, safe-swallow strategies; may plan for tube feeding if needed. Annals of Translational Medicine
Individualized education plan (IEP): school supports, assistive communication devices. MDPI
Orthotics and adaptive seating: AFOs, spinal braces, and supportive wheelchairs help posture and mobility. NCBI
Vision therapy / low-vision supports: patching, prisms, or strategies for strabismus-related issues. Metabolic Support UK
Seizure safety plan: caregiver training for rescue steps; sleep and illness routines that reduce triggers. MDPI
Nutritional optimization: high-calorie formulas, dietitian guidance, vitamin/mineral repletion. Annals of Translational Medicine
Reflux positioning and thickened feeds: to reduce aspiration and discomfort. Annals of Translational Medicine
Respiratory physiotherapy: airway clearance techniques during infections. Annals of Translational Medicine
Bone health program: weight-bearing activities and vitamin D/calcium support. NCBI
Coagulation safety habits: soft toothbrushes, protective wear during PT, fall-prevention if coagulopathy. BioMed Central
Liver-friendly lifestyle: avoid unnecessary hepatotoxins; vaccination for hepatitis when appropriate. PMC
Sleep hygiene routines: fixed schedules and calming bedtime practices. MDPI
Psychological and family support: counseling, rare-disease networks. Genetic Diseases Info Center
Genetic counseling: inheritance, family planning, carrier testing. Nature
Palliative care involvement (any severity): symptom relief and care coordination focused on goals and comfort. Frontiers
Infection-prevention practices: hand hygiene, prompt treatment of illness. Annals of Translational Medicine
Regular multidisciplinary clinics: neurology, genetics, gastro/hepatology, nutrition, PT/OT/SLP, ophthalmology. Metabolic Support UK
Drug treatments
Doses vary by age, weight, organ function, and local protocols. Always individualize with the child’s clinician, especially if liver disease is present.
Levetiracetam (antiepileptic): e.g., 10–60 mg/kg/day in 2 doses. Daily. Purpose: control seizures. Mechanism: SV2A modulation lowers neuronal excitability. Side effects: irritability, somnolence. MDPI
Valproate (antiepileptic): e.g., 10–60 mg/kg/day in divided doses (avoid/warn if liver disease). Purpose: broad seizure control. Mechanism: GABA increase, sodium/calcium channel effects. Side effects: hepatotoxicity risk, thrombocytopenia, weight gain. MDPI
Topiramate (antiepileptic): e.g., 3–9 mg/kg/day in 2 doses. Purpose: adjunct for refractory seizures. Mechanism: AMPA antagonism, carbonic anhydrase inhibition. Side effects: appetite loss, acidosis, stones. MDPI
Clobazam (benzodiazepine): e.g., 0.25–1 mg/kg/day in 1–2 doses. Purpose: add-on for difficult epilepsy. Mechanism: GABA-A positive modulation. Side effects: sedation, tolerance. MDPI
Rescue midazolam (intranasal/buccal): per weight-based protocol during clusters. Purpose: stop acute seizures. Mechanism: GABA-A. Side effects: respiratory depression (monitor). MDPI
Baclofen (antispastic): 0.5–2 mg/kg/day in 3 doses. Purpose: reduce tone/spasms. Mechanism: GABA-B agonist. Side effects: sedation, hypotonia. MDPI
Diazepam at night (muscle relaxant): individualized. Purpose: spasm relief and sleep. Mechanism: GABA-A. Side effects: sedation, dependence. MDPI
Melatonin (sleep): 1–5 mg at bedtime (pediatric protocols vary). Purpose: improve sleep. Mechanism: circadian signaling. Side effects: morning sleepiness. MDPI
Omeprazole / Esomeprazole (PPI): ~0.7–3.5 mg/kg/day. Purpose: reflux control, protect airway. Mechanism: gastric acid suppression. Side effects: diarrhea, low magnesium (long-term). Annals of Translational Medicine
Ondansetron (antiemetic): 0.15 mg/kg per dose PRN. Purpose: reduce vomiting with feeds/illness. Mechanism: 5-HT3 blockade. Side effects: constipation, QT prolongation. Annals of Translational Medicine
Polyethylene glycol (constipation): 0.4–1 g/kg/day. Purpose: regular stools, less reflux/aspiration. Mechanism: osmotic. Side effects: bloating. Annals of Translational Medicine
Ursodeoxycholic acid (cholestasis): 10–20 mg/kg/day. Purpose: improve bile flow and pruritus. Mechanism: hydrophilic bile acid. Side effects: diarrhea. PMC
Vitamin K (coagulopathy): per lab-guided dosing. Purpose: support clotting factor carboxylation. Mechanism: cofactor for γ-carboxylation. Side effects: rare hypersensitivity (IV). BioMed Central
Tranexamic acid (bleeding risk situations): per hematology protocol. Purpose: stabilize clots. Mechanism: antifibrinolytic. Side effects: thrombosis risk (use specialist advice). BioMed Central
Low-molecular-weight heparin (if thrombosis occurs): weight-based. Purpose: treat/avoid clots. Mechanism: anti-Xa activity. Side effects: bleeding; monitor. BioMed Central
Broad-spectrum antibiotics (for infections): per local guidelines. Purpose: treat infections promptly. Mechanism: pathogen-specific. Side effects: vary by drug. Annals of Translational Medicine
IV fluids and glucose during illness: per pediatric protocol. Purpose: prevent catabolic stress. Mechanism: supports energy and perfusion. Side effects: fluid overload if misused. Annals of Translational Medicine
Multivitamin with minerals: daily. Purpose: correct common micronutrient gaps (vit D, iron if deficient). Mechanism: replaces deficits. Side effects: minimal when dosed correctly. Annals of Translational Medicine
Acetazolamide for ataxia (select CDGs; specialist use): evidence mainly in PMM2-CDG; not standard for ALG1-CDG, but neurologists may consider in specific phenotypes. Side effects: acidosis, paresthesias. GIM Journal
Experimental: D-mannose supplementation. Evidence in ALG1-CDG is inconsistent; some cell lines respond, others (e.g., S258L) do not; clinical benefit is unproven. Use only in a clinical trial. Side effects: GI upset. PMC+1
Important: Several CDG subtypes do have disease-specific sugars (e.g., mannose in MPI-CDG, galactose in PGM1-CDG), but ALG1-CDG currently has no proven disease-specific drug. Management is symptom-directed. GIM Journal+1
Dietary molecular supplements
These support general health. They do not fix the gene defect. Check labs and the liver profile before starting any supplement.
Vitamin D3: per pediatric deficiency protocol (often 600–1000 IU/day maintenance after repletion). Function: bone and immune support. Mechanism: calcium-phosphate homeostasis. NCBI
Calcium (dietary or supplement): dose per age and diet. Function: bone health with low mobility. Mechanism: mineralization. NCBI
Iron (if iron-deficient): mg/kg/day elemental iron as guided by labs. Function: prevent anemia-related fatigue and development issues. Mechanism: hemoglobin synthesis. Annals of Translational Medicine
Omega-3 (DHA/EPA): typical pediatric DHA 100–250 mg/day (check product). Function: anti-inflammatory, neuronal membrane support. Mechanism: lipid mediator effects. Annals of Translational Medicine
Protein-dense formula / modular powders: dietitian-guided. Function: growth and wound healing. Mechanism: provides adequate essential amino acids. Annals of Translational Medicine
Medium-chain triglyceride (MCT) oil: 0.5–1 mL/kg/day titrated. Function: easier calories for poor fat absorption. Mechanism: portal absorption of MCTs. Annals of Translational Medicine
Probiotics (e.g., Lactobacillus/Bifidobacterium): per product. Function: support GI health, possibly reduce antibiotic-associated diarrhea. Mechanism: microbiome modulation. Annals of Translational Medicine
Zinc (if low): age-based dosing. Function: immune and skin repair. Mechanism: cofactor for many enzymes. Annals of Translational Medicine
Coenzyme Q10 (empiric in mitochondrial-like fatigue; evidence limited): 5–10 mg/kg/day split. Function: cellular energy support. Mechanism: electron transport. Frontiers
Carnitine (if documented deficiency): mg/kg/day per labs. Function: fatty-acid transport for energy. Mechanism: acyl-carnitine shuttle. Frontiers
Regenerative / stem-cell” drugs
There are currently no approved immune-booster, regenerative, or stem-cell drugs for ALG1-CDG. Below are research directions and why they are not standard care yet. Please avoid any clinic that offers these outside a regulated trial.
Mannose-1-phosphate (Man-1-P) prodrugs (e.g., GLM101): raises GDP-mannose upstream; in PMM2-CDG animal and early clinical work shows promise, but this does not correct a defective ALG1 enzyme that uses GDP-mannose; potential relevance to ALG1 is uncertain. Use only in trials. PMC+2ScienceDirect+2
Pharmacologic chaperones: small molecules to stabilize misfolded enzymes; concept under study in CDGs but no ALG1 drug is approved. Frontiers
Read-through therapy for nonsense variants: experimental; no ALG1-specific clinical data yet. Frontiers
AAV gene therapy: in-principle approach to deliver ALG1; preclinical/early concepts only. Not available clinically. Frontiers
mRNA therapy: theoretical rescue of enzyme expression; not available for ALG1. Frontiers
Hematopoietic stem-cell transplant (HSCT): not indicated for ALG1-CDG; it does not fix body-wide glycosylation in non-hematologic tissues. Frontiers
Surgeries
Gastrostomy tube (G-tube): placed endoscopically or surgically. Why: safe nutrition, hydration, and medication delivery when oral feeding is unsafe or inadequate. Annals of Translational Medicine
Nissen fundoplication (sometimes with G-tube): wraps stomach fundus around LES. Why: severe reflux with aspiration risk not controlled by medicines. Annals of Translational Medicine
Strabismus surgery (ocular muscle alignment): adjusts eye muscles. Why: improve alignment and reduce double vision or abnormal head posture. Metabolic Support UK
Orthopedic procedures (e.g., tendon lengthening, scoliosis correction): performed by pediatric ortho teams. Why: improve positioning, sitting balance, comfort, and care. NCBI
Hernia repair or PEG revisions as needed: Why: treat symptomatic hernias or device problems for comfort and safety. NCBI
Prevention tips
Keep routine vaccines up-to-date (including influenza); ask about hepatitis vaccines if liver involved. PMC
Early treatment of infections; have an action plan with your pediatrician. Annals of Translational Medicine
Seizure plan and rescue medication on hand; share with school/caregivers. MDPI
Nutrition plan with a dietitian; prevent dehydration and catabolic stress. Annals of Translational Medicine
Protect the liver: avoid unnecessary acetaminophen overdosing and other hepatotoxins; monitor labs. PMC
Fall prevention and safe home setup (rails, non-slip mats), especially if ataxic or anticoagulated. BioMed Central
Dental hygiene to reduce bleeding and aspiration risk; soft toothbrush. BioMed Central
Bone health habits: sun exposure as appropriate, activity, vitamin D/calcium per clinician. NCBI
Regular specialist visits (neuro, genetics, GI/hepatology, PT/OT/SLP, ophthalmology). Metabolic Support UK
Genetic counseling for family planning and carrier testing. Nature
When to see doctors
Immediately for a prolonged seizure, breathing trouble, severe dehydration, high fever with lethargy, repeated vomiting, jaundice with pale stools, or unusual bleeding/bruising. PMC+1
Soon if feeds are failing, weight is dropping, stools or reflux worsen, or sleep/behavior changes markedly. Annals of Translational Medicine
Regularly for neurology, genetics, hepatology, nutrition, PT/OT/SLP, and ophthalmology follow-ups. Metabolic Support UK
Foods / dietary patterns
What to eat
Energy-dense meals (add oils/butters per dietitian) to meet growth needs. Annals of Translational Medicine
Adequate protein (lean meats, eggs, dairy/alternatives) for muscle building. Annals of Translational Medicine
Fiber-balanced choices to reduce constipation (oats, fruits, veggies). Annals of Translational Medicine
Hydration planned across the day; oral rehydration during illnesses. Annals of Translational Medicine
Vitamin D and calcium-rich foods (milk/yogurt/fortified alternatives, leafy greens). NCBI
What to avoid or limit
- Choke hazards; follow texture recommendations from feeding therapy. Annals of Translational Medicine
- Trigger foods for reflux (very acidic/spicy) if GERD is present. Annals of Translational Medicine
- Excess added sugars that displace nutrient-dense calories. Annals of Translational Medicine
- Unnecessary herbal products that can affect the liver or interact with seizure meds. PMC
- Fad “cures” claiming to fix glycosylation—none are proven for ALG1-CDG. CDG Hub
FAQs
Is ALG1-CDG curable today?
No. There is no approved cure yet. Care focuses on seizures, feeding, growth, movement, liver health, and development. CDG HubCan special sugars like mannose cure this?
For MPI-CDG, oral mannose helps. In ALG1-CDG, evidence is inconsistent and may not work because the enzyme that uses mannose (ALG1) is the problem. Do not use outside a clinical trial. GIM Journal+1How is the diagnosis confirmed?
By genetic testing showing disease-causing variants in ALG1; labs often show a type I transferrin pattern and sometimes an ALG1-specific N-tetrasaccharide. PMC+2NCBI+2Why does my child have seizures?
Many brain proteins need correct glycosylation. When this is disrupted, networks can misfire, causing epilepsy. MDPIWhat specialists are needed?
Neurology, genetics/metabolic, gastro/hepatology, nutrition, PT/OT/SLP, ophthalmology, and sometimes cardiology and hematology. Metabolic Support UKWill my child walk or talk?
Outcomes vary widely—from severe to mild. Early therapies and good nutrition help each child reach personal potential. PMC+1Is liver disease permanent?
Liver involvement varies; some children normalize enzymes, others develop fibrosis. Monitoring guides care and timing of interventions. PMC+1Are there unique lab markers?
Yes—besides transferrin, some patients show an aberrant N-tetrasaccharide on serum N-glycans that points to ALG1-CDG. PMCWhat about gene therapy?
It is a promising idea, but not available for ALG1-CDG yet. Follow reputable trial registries. FrontiersCan stress or illness worsen symptoms?
Yes. Illness and fasting can worsen feeding, seizures, and weakness. Have a sick-day plan. Annals of Translational MedicineIs there a standard medicine list?
No single list fits all. Medicines are chosen for the child’s symptoms and organ profile, especially liver function. PMCDo we need a G-tube?
If weight gain is poor or aspiration risk is high despite therapy and medicines, a G-tube can safely deliver nutrition and meds. Annals of Translational MedicineIs this inherited?
Yes. It is autosomal recessive. Parents are usually healthy carriers. Each pregnancy has a 25% chance of an affected child. NatureWhere can families find support?
Rare-disease organizations and CDG foundations provide education and community. Multidisciplinary clinics coordinate care. Genetic Diseases Info CenterWhat research is active now?
General CDG research includes substrate replacement (like Man-1-P prodrugs in other CDGs), pharmacologic chaperones, and gene/mRNA therapy—but none are approved for ALG1-CDG today. PMC+1
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 11, 2025.
