ALG6–Congenital Disorder of Glycosylation (ALG6-CDG, CDG-Ic) is a rare, inherited condition. It happens when both copies of a gene called ALG6 do not work properly. The ALG6 gene makes an enzyme that helps the body attach tiny sugar chains to proteins. This process is called N-linked glycosylation. When ALG6 is not working, many proteins do not get the right sugars. This affects how cells, tissues, and organs work. Because many organs use glycosylation, symptoms can involve the brain, muscles, liver, growth, vision, and more. MedlinePlus+1
ALG6-CDG is a rare, inherited condition that starts in infancy and affects many body systems. It happens because the ALG6 gene is not working correctly. This gene normally helps attach small sugar units to newly made proteins inside a cell. That “sugar-attachment” step is called N-linked glycosylation. When the step fails, many proteins in the body are not built or folded the right way. As a result, children can have low muscle tone (hypotonia), feeding problems, slow development, seizures, vision problems (such as strabismus), balance troubles (ataxia), and sometimes liver or bowel problems. ALG6-CDG is passed down in an autosomal recessive pattern, which means a child gets one non-working copy of the gene from each parent. MedlinePlus+2MedlinePlus+2
Other names
People and papers may use different names for the same condition. You may see: ALG6-CDG, congenital disorder of glycosylation type Ic (CDG-Ic), ALG6 deficiency, and ALG6 alpha-1,3-glucosyltransferase deficiency. These are all the same disorder. Some resources also group it under the umbrella of congenital disorders of glycosylation (CDG), a family of many related glycosylation diseases. MedlinePlus+1
ALG6-CDG is a genetic (autosomal recessive) disease in which faulty ALG6 enzyme activity leads to missing or incorrect sugar chains on proteins. This error changes many proteins at once and causes multi-system problems such as developmental delay, low muscle tone, seizures, feeding issues, and sometimes liver involvement. Severity can vary from mild to more serious. Nature+1
During N-linked glycosylation, cells build a sugar chain on a “lipid carrier” and then move that chain onto a new protein. ALG6 adds the first glucose onto this growing chain. If ALG6 cannot do this step, the chain remains incomplete. As a result, many proteins fold poorly or are unstable. The body then struggles to use these proteins correctly. That is the core reason ALG6-CDG causes disease. NCBI+1
Types
There is not a strict official “type 1, type 2, etc.” within ALG6-CDG itself, but doctors often describe patterns based on which systems are most affected and how severe things are:
1) Classic infant or early-childhood multi-system form.
Babies or toddlers have feeding problems, poor growth, weak muscle tone, delayed milestones, and sometimes seizures. Vision or eye movement problems and mild liver issues can appear. Brain scans may show thin or small brain structures. Nature
2) Neurologic-predominant form (mild to moderate).
Children mainly have developmental delay, coordination problems (ataxia), and low muscle tone. Seizures may or may not occur. Other organs are less involved or only mildly involved. NCBI
3) Liver-leaning form.
Some people have more obvious liver signs (elevated enzymes, low clotting factors) but only modest neurologic symptoms. This still reflects the same ALG6 problem. (This pattern is reported across CDG and may be seen in ALG6-CDG cases.) National Organization for Rare Disorders
4) Attenuated / milder form in older children or adults.
A few people present later, with milder learning or coordination issues and subtle exam or lab findings. Variation in severity is well known in ALG6-CDG. cdghub.com
Causes
ALG6-CDG is ultimately caused by pathogenic variants (harmful changes) in both copies of the ALG6 gene. Below are 20 plain-English “cause” statements that explain the different ways this can happen or be influenced. Think of them as how the gene can be damaged, how the enzyme can fail, and what can modify disease expression.
Autosomal recessive inheritance.
You need two harmful ALG6 variants (one from each parent) for disease. Carriers usually have no symptoms. This inheritance pattern is the root cause. NatureMissense variants that change a critical amino acid.
A single “letter” change can alter the enzyme’s shape so it works poorly or not at all. This is a common mechanism. NatureNonsense variants that introduce a stop signal.
A “stop” change can make the enzyme too short to function. NatureSplice-site variants.
Changes at intron-exon boundaries can disrupt how RNA is spliced, producing faulty instructions and a defective enzyme. NatureFrameshift variants (small insertions/deletions).
Adding or removing a DNA letter shifts the reading frame and usually ruins enzyme production. NatureLarger deletions or duplications in ALG6.
Some people may have a missing or extra chunk of the gene, leading to reduced or absent enzyme. NaturePromoter or regulatory variants.
Changes in control regions can lower ALG6 expression so the cell makes too little enzyme. (Less common, but biologically plausible across CDG genes.) NatureProtein misfolding and ER quality-control loss.
Even if the enzyme is made, misfolding can cause it to be degraded in the endoplasmic reticulum, decreasing active enzyme. UniProtActive-site disruption.
Variants can directly affect the part of ALG6 that binds its lipid-linked sugar donor, blocking the first glucose addition step. UniProtImpaired attachment to the lipid carrier.
ALG6 acts on a dolichol-linked oligosaccharide. If ALG6 cannot access or act on this substrate due to a structural change, glycosylation stalls. UniProtCompound heterozygosity.
Two different harmful variants (one on each copy) can combine to reduce enzyme function below a critical threshold. NatureFounder variants in some populations.
Certain communities may share a recurring ALG6 change, leading to more cases there. (Founder effects are described for several CDGs; individual ALG6 founder variants are reported in the literature.) NCBIGenetic background and modifiers.
Other genes in the glycosylation pathway can influence severity. An ALG6 variant can also modify the course of other CDGs (for example, ALG6 changes have been noted as modifiers of PMM2-CDG severity), showing that pathway context matters. NCBIConsanguinity increases chance of two variants.
When parents are related, the chance the child inherits the same rare variant from both sides is higher. This can increase risk for recessive diseases like ALG6-CDG. (General principle for recessive disorders.) National Organization for Rare DisordersLoss-of-function burden.
Two “strong” loss-of-function variants (e.g., nonsense + frameshift) often cause more severe enzyme loss than a pair of milder missense variants. This can shape severity. NatureEndoplasmic reticulum stress from misglycosylation.
Poor glycosylation can stress the ER and worsen cell function, amplifying disease effects beyond the original gene defect. UniProtEnergy and nutrient demand of rapidly growing tissues.
Organs that grow quickly (brain, liver, muscle in infancy) need many glycoproteins. ALG6 defects hit them harder, which helps explain early symptoms. (General CDG principle.) National Organization for Rare DisordersTemperature or illness stress can unmask weakness.
Fever, infections, or other stressors may make borderline cellular processes fail, briefly worsening symptoms in some children. (Common across inborn errors.) National Organization for Rare DisordersHeterogeneity of ALG6 variants worldwide.
Different families carry different rare variants. This explains why severity and features are variable between patients. cdghub.comNo environmental “cause” creates ALG6-CDG.
Diet or exposures do not cause ALG6-CDG. The underlying driver is inherited gene change. Supportive care helps, but it does not remove the genetic cause. MedlinePlus
Common symptoms and signs
1) Developmental delay.
Children reach milestones later. Sitting, standing, walking, and speech may come slowly. School learning can also be affected. MedlinePlus
2) Low muscle tone (hypotonia).
Muscles feel “floppy,” especially in infancy. This makes holding the head up or feeding harder. Nature
3) Seizures.
Some children have seizures. They may need anti-seizure medicine and EEG checks. MedlinePlus
4) Ataxia (poor balance and coordination).
Walking can look unsteady. Fine finger tasks may be difficult. NCBI
5) Feeding problems and poor weight gain.
Babies may tire during feeds or vomit. They can fail to thrive without support. Nature
6) Eye problems.
Strabismus (misaligned eyes), nystagmus (eye shaking), or reduced vision can occur. Regular eye care helps. Nature
7) Speech and language delay.
Words come later. Therapy helps children communicate better. Rare Diseases Network
8) Behavior and sleep issues.
Irritability, sleep problems, or attention challenges may appear and need gentle routines and support. Rare Diseases Network
9) Intellectual disability of varying degree.
Thinking and problem-solving skills can be mild to moderately affected. Supportive education is important. Rare Diseases Network
10) Liver involvement.
Some children have high liver enzymes or low clotting factors. Doctors monitor labs and treat as needed. Rare Diseases Network
11) Heart muscle weakness (less common).
A few patients have cardiomyopathy and need heart evaluation. Rare Diseases Network
12) Hearing loss or vision loss (variable).
Sensory testing helps catch these early so aids can be offered. Rare Diseases Network
13) Thin corpus callosum or small brain structures on MRI.
Imaging sometimes shows under-developed brain areas that match the movement and coordination problems. Nature
14) Stroke-like episodes (rarely reported).
A few patients with ALG6-CDG or the CDG group have had sudden weakness episodes. This is less typical than in some other CDGs but is described. MedlinePlus
15) Growth issues.
Short stature or small head size can be present. Nutrition and endocrinology input can help. MedlinePlus
Diagnostic tests
Below are 20 useful tests. I group them into Physical Exam, Manual (bedside/functional) tests, Lab & Pathology, Electrodiagnostic, and Imaging. Each one includes what it looks for and why it matters.
Physical exam
General pediatric and neurologic exam.
The doctor checks growth, head shape, tone, reflexes, movements, and coordination. This sets the baseline and guides further testing. National Organization for Rare DisordersFeeding and nutrition assessment.
Observation of latch, swallow, and fatigue helps decide if therapy, thickened feeds, or tube feeding is needed. National Organization for Rare DisordersEye examination by an ophthalmologist.
Vision and eye movements (strabismus, nystagmus) are checked so glasses, patching, or therapies can be started early. NatureLiver and spleen palpation.
The clinician gently feels the abdomen for organ size and tenderness to screen for liver involvement. National Organization for Rare Disorders
Manual / bedside functional tests
Developmental screening tools (e.g., Ages & Stages, Bayley).
Structured play-based checks identify delays and target therapies. National Organization for Rare DisordersGross and fine motor assessments by physical/occupational therapy.
Therapists measure sitting balance, walking, hand use, and daily skills to plan therapy goals. National Organization for Rare DisordersSpeech-language assessment.
Assesses understanding, expression, and feeding-related oral motor control. Early therapy improves outcomes. Rare Diseases NetworkStandardized ataxia or coordination batteries (age-appropriate).
These bedside scales describe how much balance is affected and monitor progress over time. NCBIHearing screening (otoacoustic emissions or bedside audiology).
Quick checks detect early hearing loss so supports can be arranged. Rare Diseases Network
Laboratory & pathology tests
Serum transferrin isoelectric focusing (TF-IEF).
This is the classic screening test for CDG. It looks at the pattern of transferrin sugar groups in the blood. In ALG6-CDG, a type I pattern (assembly/transfer defect) is typically seen. Abnormal results should prompt molecular testing. PMC+1Transferrin mass spectrometry (LC-MS/MS).
A newer method that can confirm and better define the transferrin glycoforms, improving accuracy over IEF alone. PMCN-glycan profiling / glycomics.
More detailed sugar-chain analysis supports a defect in early N-glycan assembly consistent with ALG6. PubMedCoagulation factor levels (e.g., antithrombin, protein C/S, factor XI).
Glycosylation affects many clotting proteins. Low levels or abnormal clotting tests can appear and guide care. National Organization for Rare DisordersLiver function tests (AST, ALT, GGT, bilirubin) and albumin.
These show if the liver is inflamed or if protein production is low. Trends help with monitoring. Rare Diseases NetworkGenetic testing: targeted ALG6 sequencing or multi-gene CDG panel.
This confirms the diagnosis by identifying pathogenic ALG6 variants. Panels or exome sequencing are often used. NCBIParental carrier testing and segregation analysis.
Testing parents clarifies inheritance and helps with counseling for future pregnancies. NatureEnzyme or functional assays in fibroblasts (specialized).
Some centers assess glycosylation function in skin cells to support the molecular findings. NCBI
Electrodiagnostic tests
Electroencephalogram (EEG).
Records brain waves to diagnose and guide treatment for seizures. Useful when spells or developmental regression occur. Rare Diseases NetworkEvoked potentials (as needed).
Visual or auditory evoked responses can measure pathway function when vision or hearing concerns arise. National Organization for Rare Disorders
Imaging tests
Brain MRI.
MRI may show a thin corpus callosum or mild cerebral/cerebellar atrophy, which fit the movement and coordination problems. MRI also helps rule out other causes.
Non-Pharmacological Treatments (therapies & others)
Each item includes: Description, Purpose, Mechanism (how it helps). These are building blocks of a personalized plan—your team will tailor them to age, goals, and medical status.
Physiotherapy for hypotonia and motor delay
Description: Regular, play-based sessions focusing on head control, rolling, sitting, crawling, standing, gait, and endurance.
Purpose: Improve strength, balance, joint stability, and functional mobility.
Mechanism: Repeated task-specific practice and muscle activation promote neuro-motor learning and prevent contractures.Occupational therapy (fine motor & daily living skills)
Description: Training for hand use, grasp and release, feeding skills, dressing, and adaptive strategies.
Purpose: Build independence in daily tasks.
Mechanism: Task analysis, graded challenges, and environmental modifications support sensory-motor integration and skill acquisition.Speech-language therapy (communication)
Description: Early communication support, language stimulation, and use of augmentative and alternative communication (AAC) if needed.
Purpose: Improve understanding and expression; reduce frustration.
Mechanism: Structured language exposure and AAC give reliable pathways for communication even when speech is delayed.Feeding and swallowing therapy
Description: Oral-motor exercises, safe textures, pacing, and positioning; consult dietitian for calories and protein.
Purpose: Improve feeding safety, reduce choking/aspiration, and support growth.
Mechanism: Strengthens swallow coordination; compensatory techniques reduce aspiration risk and energy cost of feeding.High-calorie nutrition plan
Description: Energy-dense meals, added oils/powders, and frequent small feeds; monitor growth charts.
Purpose: Prevent failure to thrive.
Mechanism: Increases energy intake to match higher needs from hypotonia and therapy demands; supports brain and muscle growth.Thickened fluids / texture modification (if dysphagia)
Description: Use of thickeners and texture transitions guided by swallow study.
Purpose: Safer swallow, fewer coughing/choking events.
Mechanism: Slower flow and cohesive bolus improve airway protection.Gastrostomy tube (G-tube) feeding support
Description: Tube placed through the abdomen for reliable nutrition/hydration; may combine with oral tastes.
Purpose: Ensure adequate intake when oral feeding is unsafe or insufficient.
Mechanism: Bypasses oral/coordination limits; reduces hospitalization for dehydration or weight loss.Behavioral sleep strategies
Description: Fixed sleep schedule, bedtime routine, dim light, and daytime activity; consider actigraphy-guided plans.
Purpose: Improve sleep quality and daytime behavior.
Mechanism: Sleep hygiene and circadian cues consolidate sleep and reduce night waking common in neurodevelopmental disorders.Vision care & low-vision rehabilitation
Description: Regular exams, glasses if needed, patching/orthoptics for strabismus, visual skills training.
Purpose: Maximize visual function and development.
Mechanism: Corrects refractive error and strengthens binocular control to support learning and orientation.Early intervention & special education
Description: Individualized education plans (IEPs), developmental preschool, and classroom accommodations.
Purpose: Optimize learning, communication, and social participation.
Mechanism: Structured, repetitive instruction with supports (visual schedules, AAC) improves skill generalization.Ataxia-focused balance training
Description: Static and dynamic balance drills, gait aids, trunk control work.
Purpose: Reduce falls and improve coordination.
Mechanism: Cerebellar-style repetitive practice enhances motor planning and postural strategies.Orthotics & adaptive equipment
Description: Ankle-foot orthoses, seating systems, standers, walkers, or wheelchairs as needed.
Purpose: Improve alignment, energy efficiency, and participation.
Mechanism: External support reduces compensations and joint stress, enabling longer practice.Respiratory physiotherapy (if weak cough/aspiration history)
Description: Positioning, assisted cough techniques, suction training for caregivers.
Purpose: Reduce chest infections; clear secretions.
Mechanism: Improves airway clearance and ventilation.Liver-friendly lifestyle counseling
Description: Avoid unnecessary hepatotoxic exposures (e.g., excess acetaminophen), update vaccines (hepatitis A/B), routine labs.
Purpose: Protect the liver when mild dysfunction is present.
Mechanism: Reduces avoidable liver stress and supports regeneration.Thrombosis/bleeding safety education
Description: Teach families warning signs (leg swelling, chest pain, unusual bruising) and peri-procedure plans.
Purpose: Early detection and prevention of clotting or bleeding issues seen in some CDG subtypes.
Mechanism: Risk awareness plus timely medical action lowers complications.Social work and care coordination
Description: Help with services, transport, respite, financial support, and school liaison.
Purpose: Reduce caregiver burden and missed care.
Mechanism: System navigation turns recommendations into real access.Genetic counseling
Description: Explain inheritance, carrier testing for parents/siblings, and future family planning options.
Purpose: Informed decisions for the family.
Mechanism: Clarifies autosomal-recessive risk and testing pathways. MedlinePlusClinical-trial and registry participation
Description: Consider joining CDG registries or natural history studies (e.g., FCDGC).
Purpose: Access expertise and contribute to research.
Mechanism: Standardized data collection accelerates discovery of future treatments. fcdgc.rarediseasesnetwork.orgMental-health support
Description: Counseling for parents and, when appropriate, for the child; peer-support groups.
Purpose: Reduce stress, improve coping, and sustain long-term caregiving.
Mechanism: Evidence-based therapies (CBT, supportive counseling) enhance resilience.Transition-to-adulthood planning
Description: Stepwise transfer to adult neurology, hepatology, cardiology, and disability services.
Purpose: Maintain continuity of care.
Mechanism: Structured handover prevents care gaps as teens age out of pediatric systems.
Drug Treatments
Safety first: Doses below are typical starting ranges for awareness only—exact dosing, timing, monitoring, and drug choices must be set by your clinicians based on weight, interactions, liver status, seizure type, clotting profile, and local guidelines. There is no disease-modifying drug specifically proven for ALG6-CDG at this time. Care is individualized. NCBI
Seizures / neurologic
Levetiracetam (antiepileptic).
Typical pediatric dose: ~10–60 mg/kg/day in 2 doses.
Purpose: Broad seizure control with fewer interactions.
Mechanism: Modulates synaptic neurotransmitter release (SV2A).
Common side effects: Irritability, somnolence.Valproate (antiepileptic).
Dose: often ~15–60 mg/kg/day divided; careful liver monitoring.
Purpose: Generalized or mixed seizure types.
Mechanism: Increases GABA; multiple ion-channel effects.
Side effects: Weight gain, tremor, thrombocytopenia; avoid in significant liver disease.Lamotrigine (antiepileptic).
Dose: slow titration to effect (rash risk).
Purpose: Focal and generalized seizures; mood benefits.
Mechanism: Sodium-channel modulation.
Side effects: Rash (rare SJS), dizziness.Clobazam (benzodiazepine).
Dose: weight-based; bedtime dosing can aid sleep.
Purpose: Add-on for refractory seizures.
Mechanism: GABA-A positive modulation.
Side effects: Sedation, tolerance.Topiramate (antiepileptic).
Dose: gradual titration; monitor appetite and cognition.
Purpose: Broad-spectrum add-on.
Mechanism: Multiple (AMPA/kainate blockade, carbonic anhydrase).
Side effects: Weight loss, acidosis risk, kidney stones.
Tone, spasticity, and movement
Baclofen (oral antispastic).
Dose: usually 0.3–2 mg/kg/day divided; titrate.
Purpose: Reduce spasticity-related stiffness or pain.
Mechanism: GABA-B agonist in spinal cord.
Side effects: Sedation, hypotonia; taper slowly.Diazepam (for spasms/spasticity at night).
Dose: individualized low-dose at bedtime.
Purpose: Ease nocturnal spasms and improve sleep.
Mechanism: GABA-A facilitation.
Side effects: Sedation, tolerance.Trihexyphenidyl (if dystonia present).
Dose: careful titration.
Purpose: Relieve dystonic postures.
Mechanism: Central anticholinergic.
Side effects: Dry mouth, constipation.
GI, feeding, and reflux
Omeprazole / Esomeprazole (PPI).
Dose: ~0.7–3.5 mg/kg/day.
Purpose: Reduce reflux and esophagitis.
Mechanism: Proton pump inhibition.
Side effects: GI upset; long-term use needs review.Domperidone / Metoclopramide (prokinetic; regional practices vary).
Dose: weight-based; monitor for side effects.
Purpose: Improve gastric emptying and reduce vomiting.
Mechanism: Dopamine antagonism enhances motility.
Side effects: QT prolongation (domperidone), extrapyramidal effects (metoclopramide).Polyethylene glycol (PEG)
Dose: titrate to daily soft stools.
Purpose: Treat constipation that worsens feeding and reflux.
Mechanism: Osmotic stool softener.
Side effects: Bloating.
Liver and intestinal protein loss (in some patients)
Ursodeoxycholic acid
Dose: ~10–20 mg/kg/day divided.
Purpose: Support cholestatic liver disease.
Mechanism: Cytoprotective bile acid.
Side effects: Diarrhea.Albumin infusions (for protein-losing enteropathy with edema)
Dose: specialist-guided (e.g., 1 g/kg) with diuretics.
Purpose: Restore oncotic pressure and relieve swelling.
Mechanism: Replaces lost serum albumin.
Side effects: Fluid shifts; monitor closely.Octreotide
Dose: individualized; often 1–10 mcg/kg/day to start.
Purpose: Selected cases of protein-losing enteropathy.
Mechanism: Reduces intestinal lymph flow and secretion.
Side effects: GI cramps, gallstones.
Coagulation and thrombosis/bleeding balance
Vitamin K
Dose: per labs and clinical context.
Purpose: Correct prolonged PT/INR due to vitamin-K-dependent factor deficiency.
Mechanism: Cofactor for clotting-factor gamma-carboxylation.
Side effects: Rare hypersensitivity (IV).Low-molecular-weight heparin (e.g., enoxaparin)
Dose: hematology-guided (e.g., anti-Xa–based, ~1 mg/kg q12h).
Purpose: Treat or prevent thrombosis in high-risk settings.
Mechanism: Potentiates antithrombin to inhibit factor Xa.
Side effects: Bleeding; needs monitoring.Fresh frozen plasma / specific factor concentrates
Dose: procedure-specific.
Purpose: Peri-operative bleeding risk reduction.
Mechanism: Replaces deficient clotting factors.
Side effects: Transfusion risks.
Cardiac involvement (rare but reported)
ACE inhibitors (e.g., enalapril)
Dose: ~0.1–0.5 mg/kg/day divided.
Purpose: Manage cardiomyopathy or ventricular dysfunction.
Mechanism: Afterload reduction; neurohormonal modulation.
Side effects: Cough, hyperkalemia; monitor kidney function. BioMed CentralBeta-blockers (e.g., carvedilol, propranolol—specialist guided)
Purpose: Rate control and cardiomyopathy support.
Mechanism: Sympathetic blockade improves remodeling.
Side effects: Bradycardia, fatigue.
Sleep/behavior
Melatonin
Dose: commonly 1–5 mg at bedtime (children); adjust to effect.
Purpose: Improve sleep onset and maintenance.
Mechanism: Circadian cue; sleep-phase alignment.
Side effects: Morning grogginess.
Dietary Molecular Supplements
Note: Evidence for supplements in ALG6-CDG is limited; these are used to support nutrition, energy production, or bone health. They do not correct glycosylation.
Balanced pediatric multivitamin/mineral — covers baseline micronutrients when intake is limited.
Omega-3 fatty acids (fish-oil) — anti-inflammatory support; may aid cognition in general pediatric neurodevelopmental settings.
Medium-chain triglyceride (MCT) oil — compact calories for weight gain; easy absorption.
Protein powders (whey/pea) — boosts daily protein for growth and muscle repair.
Carnitine — supports fatty-acid transport in mitochondria when intake is poor; use if deficiency.
Coenzyme Q10 — electron-transport support; sometimes tried in neurometabolic disorders (evidence variable).
Vitamin D — bone health and immunity; replete per labs.
Calcium — bone mineral needs; pair with vitamin D.
Soluble fiber — improves stool regularity and gut health.
Electrolyte solution — prevents dehydration during illness or vomiting.
Regenerative / stem-cell drugs
There are no approved immune boosters, regenerative drugs, or stem-cell therapies proven to treat ALG6-CDG. Using such treatments outside a regulated clinical trial can be risky. If immune problems are documented (e.g., true antibody deficiency), clinicians may consider standard therapies like vaccinations per schedule and IVIG in specific, proven indications—but this is not routine for ALG6-CDG. The safest path is to ask your CDG center about clinical trials or natural history studies you can join. NCBI+1
Surgeries/Procedures (why they’re done)
Gastrostomy tube (G-tube) placement — to secure nutrition/hydration when oral intake is unsafe or inadequate; reduces aspiration risk and hospitalizations.
Fundoplication (sometimes with G-tube) — for severe reflux not controlled by medicine; helps prevent aspiration.
Strabismus surgery — aligns the eyes to improve binocular function and prevent amblyopia.
Orthopedic procedures (e.g., tendon lengthening, scoliosis correction) — reduce contractures, improve comfort and positioning when conservative care fails.
Dental procedures under anesthesia with careful peri-operative planning — to manage oral-motor challenges and aspiration risk while protecting teeth.
Prevention & Risk-Reduction Tips
Keep routine vaccinations up to date (including influenza); discuss any special circumstances with your team.
Use aspiration-safe feeding (right textures, pacing, upright posture).
Maintain a personalized emergency plan for seizures, dehydration, and suspected clots/bleeding.
Hand hygiene and prompt care for fevers or chesty coughs to reduce infection risk.
Growth and nutrition tracking at every visit; adjust calories early.
Regular vision and hearing checks to support learning and safety.
Liver and coagulation monitoring if labs have been abnormal; plan ahead for surgeries/dental work.
Sun-safe, active play and physical therapy homework to maintain strength and bone health.
Medication review before starting new drugs (watch for liver- or clotting-related issues).
Genetic counseling for family planning and to test siblings when appropriate. MedlinePlus
When to see a doctor urgently
New or worsening seizures, prolonged seizure, or unusual drowsiness after a seizure.
Dehydration signs (very few wet diapers/urine, lethargy, dry mouth) or sudden weight loss.
Possible aspiration (coughing/choking with feeds, fever, fast breathing).
Signs of clot or bleeding (one-sided leg swelling, chest pain/shortness of breath, unusual bruising, nosebleeds that won’t stop).
Jaundice, very dark urine, pale stools, or belly swelling.
Rapidly worsening balance or loss of previously gained skills.
What to eat and what to avoid
Eat more of: energy-dense foods (nut butters, oils, full-fat dairy if tolerated), protein sources (eggs, fish, poultry, legumes), soft fruits/vegetables, whole-grain cereals softened with milk/yogurt, smoothies fortified with powders and oils.
Use texture modifications: purées, minced-moist, or soft-bite-size based on swallow evaluation; thicken fluids if recommended.
Hydrate well: frequent small sips; oral rehydration solution during illness.
Avoid/limit: choking hazards (nuts, hard raw vegetables) unless safely modified; highly acidic foods if reflux is severe; “mega-dose” supplements without medical advice; unnecessary herbal remedies that may stress the liver.
Work with a dietitian to fine-tune calories, protein, fiber, and micronutrients.
Frequently Asked Questions
Is ALG6-CDG curable?
Not yet. Today’s care is supportive and preventive. Research registries are working toward future treatments. NCBI+1How is it inherited?
Autosomal recessive; both parents are usually healthy carriers. Each pregnancy has a 25% chance the child will have ALG6-CDG. MedlinePlusCan two children in the same family be affected?
Yes. Carrier parents can have more than one affected child. Genetic counseling is recommended. MedlinePlusWhat tests confirm ALG6-CDG?
Abnormal transferrin glycoform blood test (type-I pattern) plus genetic testing showing two pathogenic ALG6 variants. NCBI+1Do all children have seizures?
No. Seizures are common but not universal. If present, standard anti-seizure medicines are used and tailored to the child. Genetic Diseases Info CenterIs the liver always involved?
No. Some children have normal liver tests; others have mild problems; a minority develop more significant issues. Genetic Diseases Info CenterCan the heart be affected?
It is uncommon, but cases of cardiomyopathy have been reported; cardiology follow-up is guided by symptoms or abnormal tests. BioMed CentralWill my child walk or talk?
Many children gain skills with therapy, but timelines vary. Early, sustained physio/OT/speech support helps maximize potential.Does diet cure ALG6-CDG?
No. Diet supports growth and energy but does not fix glycosylation. Specialized sugar therapies that help other CDGs do not apply to ALG6-CDG. NCBIAre vaccines safe?
Follow standard schedules unless your team advises otherwise for specific reasons. Vaccination prevents serious infections that can cause setbacks.What about stem-cell therapy or “immune boosters”?
These are not approved for ALG6-CDG and may be risky outside a regulated study. Ask about clinical trials/registries instead. fcdgc.rarediseasesnetwork.orgCan adults have ALG6-CDG?
Yes. With better care, more individuals are reaching adulthood. Transition planning is important.How often should labs be checked?
Your team will set a schedule (e.g., growth, nutrition, liver tests, clotting tests) based on your child’s situation.What specialists are usually involved?
Metabolic genetics, neurology, gastroenterology/hepatology, cardiology (if indicated), ophthalmology, nutrition, and rehabilitation services.Where can we find reliable information and community?
MedlinePlus Genetics, the NIH GARD page, CDG Hub, and the Frontiers in CDG Consortium (FCDGC) provide expert information and support links. fcdgc.rarediseasesnetwork.org+3MedlinePlus+3Genetic Diseases Info Center+3
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 12, 2025.
