Carbohydrate Deficient Glycoprotein Syndrome Type Id

Carbohydrate-deficient glycoprotein syndrome type Id is a rare inherited disease. It affects the way the body adds sugar chains to proteins. This sugar-adding process is called N-glycosylation. It happens inside a small cell “factory” called the endoplasmic reticulum (ER). In CDG-Id, a gene named ALG3 does not work correctly. This gene makes an enzyme (alpha-1,3-mannosyltransferase) that adds a sugar called mannose to a growing sugar chain. If ALG3 is faulty, the sugar chain is built the wrong way. Many proteins then receive too little sugar or the wrong pattern of sugar. These proteins cannot work well. Because almost all organs need well-glycosylated proteins, many body systems are affected—especially the brain and nerves. The condition is autosomal recessive. That means a child becomes ill when both copies of the ALG3 gene have harmful changes (variants). PMC+2NCBI+2

Carbohydrate-Deficient Glycoprotein Syndrome type Id is a very rare, inherited disease. Doctors now call it ALG3-CDG because it is caused by changes (variants) in a gene named ALG3. This gene gives instructions for making an enzyme (a special protein) that builds a sugar chain on other proteins inside our cells. This sugar-adding process is called N-linked glycosylation. In ALG3-CDG, the ALG3 enzyme does not work well, so many body proteins do not get their proper sugar chains. These “under-sugared” proteins cannot work normally. Because nearly every organ uses these proteins, many body systems can be affected, especially the brain, nerves, eyes, muscles, gut, heart, and immune system. Symptoms usually start in infancy. The condition is autosomal recessive (a child has to get one faulty ALG3 gene from each parent). There is no drug that fixes the basic defect yet, so care focuses on treating symptoms and supporting development. NCBI+3Orpha+3PMC+3

It adds a mannose sugar in an alpha-1,3 link to a growing sugar tree sitting on a lipid “anchor” (dolichol) in the endoplasmic reticulum. When ALG3 is missing, an earlier, shorter sugar (GlcNAc₂Man₅-PP-dolichol) builds up, and the final protein-bound glycan stays incomplete. This causes the classic “type I” transferrin pattern on lab testing and wide-spread protein malfunction. ScienceDirect+1

Children usually show signs in infancy. Common problems include low muscle tone, developmental delay, microcephaly (small head size), seizures (often infantile spasms), vision and hearing problems, feeding difficulty, and sometimes liver and blood-clotting problems. Brain MRI may show brain or cerebellar atrophy. The diagnosis is supported by special blood tests that show under-glycosylated transferrin and by genetic testing that finds pathogenic variants in ALG3. rarediseases.info.nih.gov+1

Other names

• ALG3-congenital disorder of glycosylation

• ALG3-CDG

• CDG type Id (CDG-Id)
  All these names refer to the same disorder caused by harmful variants in ALG3. fcdgc.rarediseasesnetwork.org+1

Types

There are no official subtypes inside ALG3-CDG. Doctors usually group it in two ways:

1. By pathway class: It is a type I CDG, meaning the block occurs during assembly of the lipid-linked sugar chain and its transfer to proteins in the ER (early steps of N-glycosylation). NCBI

2. By clinical pattern (spectrum): People can show a range of severity.

• A classic severe infantile form with early hypotonia, seizures (often infantile spasms with hypsarrhythmia), microcephaly, and profound developmental delay. rarediseases.info.nih.gov

• Surviving childhood/adolescence with severe disability has been described, and even siblings can differ (intrafamilial variability). PubMed+1

Causes

Remember: the root cause is harmful variants in ALG3. The points below show how those variants lead to disease features.

1. Loss-of-function ALG3 variants (missense, nonsense, frameshift, splice) stop or weaken the enzyme that adds mannose at a key ER step. PMC

2. Block in mannosyltransferase VI step of N-glycosylation derails normal sugar-chain building. Nature

3. Abnormal lipid-linked oligosaccharide (LLO) structure forms in the ER, so proteins cannot receive complete sugars. NCBI

4. Hypoglycosylated proteins circulate in blood (for example, transferrin), showing the system is failing. NCBI

5. Neuronal glycoproteins malfunction, harming brain development and electrical signaling. This contributes to seizures and developmental delay. BioMed Central

6. Synapse and ion-channel glycosylation defects disturb brain networks, raising seizure risk. BioMed Central

7. Cell-adhesion glycoprotein defects impair brain wiring and tissue organization. BioMed Central

8. Hormone receptor glycosylation defects can change hormone signaling and growth. NCBI

9. Coagulation factor glycosylation defects increase bleeding or clotting risks. NCBI

10. Complement and immune glycoprotein changes raise infection risk. BioMed Central

11. ER stress and unfolded-protein response may occur when mis-built proteins accumulate. BioMed Central

12. Microcephaly arises from impaired brain growth linked to faulty protein processing. rarediseases.info.nih.gov

13. Retinal/visual pathway involvement from under-glycosylated photoreceptor proteins. Rare Diseases Clinical Research Network

14. Hearing loss from glycosylation defects in auditory pathways. Rare Diseases Clinical Research Network

15. Gastrointestinal dysfunction due to impaired mucosal and enteric nervous system proteins. ScienceDirect

16. Liver involvement (enzyme patterns and hepatomegaly) from secretory protein hypoglycosylation. malacards.org

17. Cardiac involvement (occasionally cardiomyopathy) when heart glycoproteins are affected. Regulations.gov

18. Musculoskeletal abnormalities due to matrix and muscle glycoprotein changes. Rare Diseases Clinical Research Network

19. Autosomal recessive inheritance explains recurrence in siblings when both parents carry a variant. PMC

20. Founder or consanguinity effects can increase homozygosity for the ALG3 variant in some families. ScienceDirect

Symptoms

1. Low muscle tone (hypotonia). Babies feel “floppy” and tire easily. This happens because muscle and nerve proteins are not glycosylated well. rarediseases.info.nih.gov

2. Global developmental delay. Sitting, standing, walking, and talking are late. Brain networks are slowed by faulty glycoproteins. Rare Diseases Clinical Research Network

3. Intellectual disability. Learning and problem-solving are affected to varying degrees. rarediseases.info.nih.gov

4. Microcephaly. Head size becomes small after birth as brain growth lags. rarediseases.info.nih.gov

5. Seizures (often infantile spasms). Spells may start early and can be hard to control. EEG may show hypsarrhythmia. rarediseases.info.nih.gov

6. Vision problems. These can include strabismus and retinal issues; some children have severe visual impairment. ScienceDirect+1

7. Hearing loss. Hearing may be reduced and needs formal testing. Rare Diseases Clinical Research Network

8. Feeding difficulty and poor weight gain. Sucking, swallowing, and reflux troubles are common. ScienceDirect

9. Gastrointestinal problems. Vomiting, constipation, or diarrhea can occur. ScienceDirect

10. Liver involvement. Some children have enlarged liver or abnormal liver tests. malacards.org

11. Bleeding or clotting problems. Coagulation factors can be low because they are under-glycosylated. NCBI

12. Recurrent infections. Immune system proteins work less well, so infections can be frequent. Rare Diseases Clinical Research Network

13. Unusual facial features (dysmorphism). Doctors may notice characteristic facial traits. Rare Diseases Clinical Research Network

14. Musculoskeletal issues. Joint or spine problems and contractures can appear over time. Rare Diseases Clinical Research Network

15. Brain atrophy on imaging. MRI can show loss of brain or cerebellar volume; this matches the neurological symptoms. rarediseases.info.nih.gov

Diagnostic tests

A) Physical examination (bedside)

1. Growth and head-size check. Doctors measure weight, length, and head circumference to confirm poor growth and postnatal microcephaly. rarediseases.info.nih.gov

2. Neurologic exam for tone and reflexes. Low tone and abnormal reflexes guide next tests. rarediseases.info.nih.gov

3. Dysmorphology assessment. A careful look for facial features, limb findings, and other clues helps point to a CDG. Rare Diseases Clinical Research Network

4. Feeding and GI evaluation at bedside. Observation of suck/swallow and reflux helps plan support. ScienceDirect

B) Manual/functional assessments

5. Developmental screening tools (e.g., Bayley scales). These define strengths and delays to plan therapies. AAP Publications

6. Physiotherapy tone and posture assessment. Therapists rate hypotonia and posture to set goals. AAP Publications

7. Clinical vision assessment (fixation, tracking). It screens for strabismus or poor visual function before formal tests. Rare Diseases Clinical Research Network

8. Feeding/swallow study at the bedside by speech-language therapist to guide safe feeding strategies. AAP Publications

C) Laboratory and pathological tests

9. Serum transferrin isoelectric focusing (IEF). This classic CDG test shows an abnormal “type I” transferrin pattern (fewer sialic acids), which suggests an early glycosylation block. NCBI

10. Transferrin glycoform analysis by mass spectrometry. A more precise method to confirm the CDG type-I pattern. NCBI

11. Total N-glycan profiling. This shows broader protein glycosylation defects. BioMed Central

12. Comprehensive genetic testing. Sequencing of the ALG3 gene (or exome/genome with CDG panels) to find pathogenic variants; parental studies confirm inheritance. This is the definitive test. NCBI

13. Liver function tests. Many CDG patients have abnormal AST/ALT or low albumin; this helps monitor organ involvement. malacards.org

14. Coagulation profile. PT/INR, aPTT, antithrombin, and factors (e.g., XI) can detect bleeding risk from under-glycosylated clotting proteins. NCBI

15. Endocrine screening. Thyroid and other hormones may be abnormal because receptors and carriers need proper glycosylation. NCBI

16. Infection and immune markers. Recurrent infections prompt immunologic panels since immune glycoproteins may be affected. Rare Diseases Clinical Research Network

D) Electrodiagnostic tests

17. Electroencephalogram (EEG). Used to diagnose seizure type; in infants, may show hypsarrhythmia with spasms. rarediseases.info.nih.gov

18. Auditory brainstem response (ABR). Checks for sensorineural hearing loss when a child cannot do standard hearing tests. Rare Diseases Clinical Research Network

19. Electroretinogram (ERG). Measures retinal function if retinal degeneration or severe visual impairment is suspected. Rare Diseases Clinical Research Network

E) Imaging tests

20. Brain MRI. Looks for cerebral and cerebellar atrophy or structural abnormalities that match the neurological picture. (Some patients also need liver ultrasound or echocardiography when organ involvement is suspected.) rarediseases.info.nih.gov+1

Non-pharmacological treatments (therapies & supports)

1. Early physiotherapy — improves posture, head control, and prevents contractures through guided movement and stretching. Purpose: maximize mobility; Mechanism: neuroplasticity + muscle conditioning. NCBI

2. Occupational therapy — hand use, daily living skills, positioning and splints. Purpose: independence and comfort; Mechanism: task-specific training. NCBI

3. Speech-language therapy — feeding/swallow strategies; later, communication. Purpose: safe feeding and expressive options; Mechanism: oromotor training + AAC. NCBI

4. Feeding/nutrition plan — high-calorie formulas, thickened feeds, reflux positioning. Purpose: growth and fewer aspirations; Mechanism: texture/position changes reduce risk. NCBI

5. Gastrostomy tube when needed — for reliable nutrition and meds. Purpose: protect lungs, improve growth; Mechanism: bypass unsafe swallow. NCBI

6. Seizure safety education — caregiver training, rescue plan. Purpose: cut injury risk and delays to care; Mechanism: preparedness. NCBI

7. Low-vision rehabilitation — glasses if useful, contrast tools, lighting, orientation. Purpose: better use of remaining vision; Mechanism: environmental optimization. BioMed Central

8. Positioning & orthoses — ankle-foot orthoses, wrist splints. Purpose: prevent deformities; Mechanism: controlled alignment and stretch. NCBI

9. Scoliosis bracing/physio — slow curve progression; keep sitting balance. Purpose: comfort and respiratory space; Mechanism: external support. NCBI

10. Respiratory hygiene — chest physiotherapy, suction, cough assist if needed. Purpose: reduce pneumonia; Mechanism: secretion clearance. NCBI

11. Sleep hygiene routine — regular schedule, calming cues. Purpose: improve seizures/behavior; Mechanism: stabilizes circadian rhythm. NCBI

12. Special education & individualized learning plan — access to services and AAC. Purpose: communication and participation; Mechanism: adapted teaching. NCBI

13. Hearing aids/therapy if loss present — amplify input for language and safety. Purpose: improve interaction; Mechanism: signal amplification. fcdgc.rarediseasesnetwork.org

14. Physical medicine & rehab clinic — integrated goals and equipment selection. Purpose: coordinated care; Mechanism: multidisciplinary review. NCBI

15. Orthopedic and seating clinic — custom wheelchairs, seating, and supports. Purpose: comfort, skin protection; Mechanism: pressure distribution. NCBI

16. Dental care with aspiration precautions — prevents pain/infection. Purpose: oral health; Mechanism: prophylaxis and safe positioning. NCBI

17. Vaccination on schedule — protect against respiratory and other infections. Purpose: reduce hospitalizations; Mechanism: immune priming. NCBI

18. Social work & respite — caregiver support, equipment funding. Purpose: reduce burnout; Mechanism: resource linkage. NCBI

19. Genetic counseling — explains inheritance, testing options for family. Purpose: informed choices; Mechanism: risk assessment education. NCBI

20. Palliative/supportive care (any stage as needed) — symptom comfort, goals-of-care planning. Purpose: quality of life; Mechanism: holistic symptom control. NCBI

Drug treatments

Important: There is no proven disease-correcting medicine for ALG3-CDG yet. The drugs below are commonly used to treat symptoms and complications seen in ALG3-CDG. Doses are typical pediatric starting/target ranges; final dosing, monitoring, and drug interactions must be managed by the child’s clinician.

Seizures

1. Levetiracetam (anti-seizure) — Class: SV2A modulator. Dose: often 20–60 mg/kg/day in 2 doses. Timing: daily. Purpose: reduce seizures. Mechanism: modulates synaptic release. Side effects: irritability, somnolence. NCBI

2. Valproate — Class: broad-spectrum AED. Dose: commonly 20–40(60) mg/kg/day in divided doses. Purpose: infantile spasms/generalized seizures. Mechanism: GABA effects, sodium channel modulation. Side effects: liver/pancreas toxicity, weight gain, thrombocytopenia; avoid in mitochondrial disease and monitor labs. NCBI

3. Clobazam — Class: benzodiazepine. Dose: ~0.25–1 mg/kg/day. Purpose: adjunct for refractory seizures. Mechanism: GABA-A enhancement. Side effects: sedation, drooling, tolerance. NCBI

4. Topiramate — Class: broad-spectrum AED. Dose: ~5–9 mg/kg/day. Purpose: adjunct. Mechanism: Na⁺ channels/GABA/AMPA effects. Side effects: appetite loss, acidosis, kidney stones. NCBI

5. Vigabatrin — Class: GABA-transaminase inhibitor. Dose: ~50–150 mg/kg/day. Purpose: infantile spasms in selected cases. Mechanism: ↑GABA. Side effects: visual field loss risk; ophthalmic monitoring required. BioMed Central

Spasticity / tone / movement

6. Baclofen — Class: GABA-B agonist. Dose: start low (e.g., 0.3–0.5 mg/kg/day divided) and titrate. Purpose: reduce spasticity. Mechanism: spinal inhibition. Side effects: sedation, hypotonia, constipation; withdrawal if abrupt stop. NCBI

7. Botulinum toxin A (focal spasticity/drooling) — Class: neuromuscular blocking biologic. Dose: unit/kg by muscle pattern. Purpose: targeted tone/drooling control. Mechanism: blocks acetylcholine release. Side effects: local weakness, swallowing risk. NCBI

8. Diazepam (as needed or nightly for spasms) — Class: benzodiazepine. Dose: individualized. Purpose: muscle relaxation, seizure rescue. Mechanism: GABA-A. Side effects: sedation, dependence. NCBI

Feeding / reflux / GI

9. Omeprazole (or other PPI) — Class: proton-pump inhibitor. Dose: ~1 mg/kg/day. Purpose: reflux/esophagitis. Mechanism: ↓acid. Side effects: diarrhea, low Mg with long use. NCBI

10. Erythromycin (low dose pro-kinetic) — Class: motilin agonist effect. Dose: ~1–3 mg/kg/dose. Purpose: gastric emptying in selected cases. Side effects: cramps, QT risk, tachyphylaxis. NCBI

11. Polyethylene glycol (PEG 3350) — Class: osmotic laxative. Dose: ~0.4–1 g/kg/day. Purpose: constipation. Mechanism: draws water into stool. Side effects: bloating. NCBI

Respiratory / secretions

12. Glycopyrrolate — Class: anticholinergic. Dose: ~0.02 mg/kg/dose tid. Purpose: drooling/aspiration reduction. Mechanism: ↓saliva. Side effects: constipation, thick secretions. NCBI

Sleep / irritability

13. Melatonin — Class: chronobiotic. Dose: 1–5 mg at bedtime. Purpose: sleep onset/maintenance. Mechanism: circadian signaling. Side effects: morning sleepiness. NCBI

Infections / prophylaxis

14. Antibiotics per culture — Class: pathogen-specific. Purpose: treat pneumonias/UTIs/skin infections. Mechanism: kill/stop bacteria. Side effects: drug-specific; stewardship important. fcdgc.rarediseasesnetwork.org

15. Palivizumab (selected infants in season, per criteria) — Class: monoclonal antibody to RSV F protein. Dose: monthly during season. Purpose: prevent severe RSV in high-risk infants. Side effects: fever, rash. (Use as per local guidance.) NCBI

Endocrine / metabolic contributors (if present)

16. Levothyroxine — Class: thyroid hormone. Dose: weight-based. Purpose: treat hypothyroidism to support growth/development. Side effects: tachycardia if over-treated. NCBI

17. Vitamin D and calcium — Class: supplements. Dose: per age/levels. Purpose: bone health, reduce fracture risk. Side effects: hypercalcemia if overdosed. NCBI

Coagulation / procedures (if abnormal)

18. Vitamin K — Class: coagulation cofactor. Dose: per labs/bleeding risk. Purpose: correct deficiency-related coagulopathy. Side effects: rare anaphylactoid with IV. NCBI

19. Fresh frozen plasma / specific factors (peri-op) — Class: blood products. Purpose: correct clotting deficits during surgery. Side effects: transfusion reactions. NCBI

Refractory epilepsy options (specialist-led)

20. Ketogenic diet (medical nutrition therapy) or epilepsy surgery are non-drug but often considered in drug-resistant cases; if add-on meds are needed, teams may trial ketamine infusions, rufinamide, or lacosamide—specialist protocols only. NCBI

Note: Some CDGs respond to special sugars (e.g., mannose for MPI-CDG, galactose for PGM1-CDG), but this does not apply to ALG3-CDG at present. Do not start sugar therapies without genetics guidance. NCBI

Dietary molecular supplements

1. High-calorie formula or modular feeds — improves growth when intake is low. Mechanism: energy repletion. Dose: kcal targets set by dietitian. NCBI

2. Medium-chain triglyceride (MCT) oil — easier fat absorption, adds calories. Mechanism: portal absorption. Dose: teaspoons per feed as tolerated. NCBI

3. Thickening agents (starch/gum) — safer swallow by slowing flow. Mechanism: viscosity. Dose: per swallow study. NCBI

4. Vitamin D3 — bone health. Mechanism: calcium balance. Dose: per age/level. NCBI

5. Calcium — bone mineralization. Mechanism: substrate. Dose: per diet gap. NCBI

6. Iron — anemia prevention. Mechanism: hemoglobin synthesis. Dose: mg/kg/day if deficient. NCBI

7. Omega-3 fatty acids — may support neurodevelopment and reduce inflammation; evidence modest. Mechanism: membrane function. Dose: per weight. NCBI

8. Multivitamin with trace minerals — covers gaps in selective eaters/tube-fed. Mechanism: cofactor support. Dose: daily. NCBI

9. Probiotics (selected strains) — stool regularity; cautious use in fragile patients. Mechanism: microbiome effects. Dose: product-specific. NCBI

10. Carnitine (if documented deficiency) — supports fatty-acid transport. Mechanism: carnitine shuttle. Dose: mg/kg/day as prescribed. NCBI

Evidence for supplements in ALG3-CDG is limited; use only with a clinician/dietitian plan.

Regenerative / stem-cell” drugs

There are no proven immune-booster, regenerative, or stem-cell drugs for ALG3-CDG. Below are research concepts under exploration for CDGs in general — not available standard treatments:

1. AAV-based gene therapy targeting ALG3 — goal: deliver a working ALG3 copy to cells; status: theoretical/pre-clinical concept. BioMed Central

2. LNP-mRNA therapy (ALG3 mRNA) — transient enzyme supply; status: experimental concept. BioMed Central

3. Pharmacologic chaperones — small molecules to stabilize certain missense ALG3 proteins; status: theoretical. BioMed Central

4. Substrate bypass (mannose-1-phosphate donors) — chemical rescue upstream; status: pre-clinical idea (not the same as free mannose used in MPI-CDG). BioMed Central

5. Read-through therapy for nonsense variants — encourages ribosome to skip premature stops; status: variant-specific and investigational. BioMed Central

6. CRISPR/prime editing — permanent gene correction; status: research only. BioMed Central

Families should be wary of clinics promising “stem-cell cures.” Discuss only within regulated clinical trials.

Surgeries (what they are and why done)

1. Gastrostomy (± fundoplication) — places a feeding tube (and sometimes tightens the top of the stomach) when swallow is unsafe or calories are not enough. Goal: safer feeding, better growth, fewer pneumonias. NCBI

2. Strabismus surgery — aligns eyes to improve function and comfort. BioMed Central

3. Orthopedic tendon-lengthening/release — for severe contractures that limit care or cause pain. NCBI

4. Scoliosis instrumentation — for large curves affecting sitting or breathing. NCBI

5. Airway procedures (e.g., supraglottoplasty, tracheostomy in rare cases) — to protect breathing when aspiration or obstruction is severe. NCBI

Preventions

1. On-time vaccines (including influenza, pneumococcal) to lower infection risk. NCBI

2. Aspiration prevention — swallow plan, proper positioning, and feed textures. NCBI

3. Seizure trigger control — good sleep, fever control, medication adherence. NCBI

4. Nutrition optimization — early dietitian support to avoid failure to thrive. NCBI

5. Contracture prevention — daily stretches, splints, seating routines. NCBI

6. Dental hygiene — reduces infection and pain risks. NCBI

7. Skin care and pressure relief — prevents ulcers in low-mobility children. NCBI

8. Bone health plan — vitamin D/calcium, weight-bearing as able. NCBI

9. Respiratory protection — suction training, chest physio during colds. NCBI

10. Emergency care plan — written seizure and aspiration plan shared with caregivers and school. NCBI

When to see doctors (red flags)

• New or worsening seizures, loss of skills, or long post-seizure sleepiness.

• Feeding trouble, choking, coughing with feeds, weight loss, or repeated vomiting.

• Breathing problems: fast breathing, bluish lips, repeated chest infections.

• Signs of dehydration, very low energy, or unexplained fevers.

• Eye changes (rapid eye movements, new strabismus) or hearing changes.

• Severe constipation with abdominal swelling or pain.

• Unusual bleeding/bruising or planned surgery (need coag assessment).

• Any major change in behavior, sleep, or pain that is not typical. fcdgc.rarediseasesnetwork.org+2BioMed Central+2

What to eat & what to avoid

What to prioritize

• Energy-dense foods/formulas; add healthy oils or modulars as guided.

• Safe texture per swallow study (purees, thickened liquids if advised).

• Regular fluid and fiber plan to prevent constipation (as tolerated).

• Adequate protein for growth; balanced vitamins/minerals.

• If tube-fed, use dietitian-approved formula with correct calorie and micronutrient mix. NCBI

What to avoid

• Thin liquids or hard-to-chew foods if swallow study shows risk.

• Very acidic/spicy foods if reflux is severe.

• Unproven “miracle sugar” regimens; mannose therapy is not for ALG3-CDG.

• Over-the-counter sedating cold medicines without doctor approval. NCBI

Frequently Asked Questions

1. Is ALG3-CDG the same as CDG-Id?
   Yes. CDG-Id is the older name; ALG3-CDG is preferred today. Orpha

2. What exactly is broken?
   An enzyme that adds a mannose sugar early in N-glycosylation; many proteins end up undersugared and don’t work right. ScienceDirect

3. How do doctors confirm the diagnosis?
   A “type I” pattern on transferrin testing plus ALG3 gene testing. Genetic testing is the gold standard. NCBI+1

4. When do symptoms start?
   Usually in infancy. Hypotonia, feeding problems, and seizures are common early signs. fcdgc.rarediseasesnetwork.org

5. Is there a cure?
   Not yet. Treatment supports nutrition, breathing, seizures, movement, vision, and comfort. NCBI

6. Do special sugars (like mannose) help?
   No for ALG3-CDG. Sugar therapies help other CDGs (e.g., MPI-CDG) but not ALG3-CDG at this time. NCBI

7. What is the outlook?
   Severity varies. Some infants are very ill; others stabilize with strong supportive care. Ongoing follow-up is vital. fcdgc.rarediseasesnetwork.org+1

8. Will my child walk or speak?
   Development is often severely affected, but therapy and assistive technology maximize each child’s abilities. NCBI

9. Are seizures common?
   Yes, and they can be hard to control. Care is best with a pediatric epilepsy team. rarediseases.info.nih.gov

10. What eye problems occur?
    Vision loss, retinal disease, and strabismus are reported; regular eye care helps. BioMed Central

11. Is it inherited? What about future pregnancies?
    Autosomal recessive. Each pregnancy has a 25% chance to be affected if both parents carry the variant. Genetic counseling can discuss options. Orpha

12. Can infections be prevented?
    Routine vaccines, good airway care, nutrition, and early treatment of colds help. NCBI

13. What specialists are involved?
    Genetics, neurology, rehab, gastroenterology/nutrition, pulmonology, ophthalmology, cardiology, audiology, and palliative care. NCBI

14. Are clinical trials available?
    CDG research networks (e.g., FCDGC) list studies; families can explore registries and trials with their genetics team. fcdgc.rarediseasesnetwork.org

15. Where can I learn more?
    Reliable summaries: Orphanet, NORD, CDG Hub, and the CDG section of GeneReviews. NCBI+3Orpha+3rarediseases.info.nih.gov+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.

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