IEMbase 0323: ALG6-related glucosyltransferase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 323 |
| Nosology | 18.1.14.01 |
| Gene | ALG6 |
| External IDs | OMIM:603147; ORPHA:79320 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid local ALG6-CDG target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ALG6-CDG/CDG-Ic as an autosomal recessive congenital disorder of glycosylation. Characteristic rows include axial hypotonia, epileptic seizures, and strabismus. Additional clinical rows include ataxia, behavioral disorder, nystagmus, psychomotor retardation, and skeletal abnormalities.
The biochemical profile includes increased or normal-to-increased serum arylsulfatase A and transaminase, low free fatty acids and ketones during hypoglycemia, increased asialotransferrin and disialotransferrin, increased lipid-linked Man9GlcNAc2 in fibroblasts, type 1 sialotransferrin pattern, decreased tetrasialotransferrin, decreased cholesterol, glucose, and thyroxin-binding globulin, decreased antithrombin III and factor XI, increased serum dolichol-linked Man9GlcNAc2, and increased insulin during hypoglycemia. No treatment rows are present.
DisMech phenotype coverage
No valid local ALG6-CDG target exists. Local CDG files such as ALG12-CDG and ALG9-CDG share broad congenital-glycosylation concepts and some overlapping phenotypes, but they are distinct gene-specific diseases. They should not be used as canonical mappings for ALG6-CDG.
Concordance and completeness
Judgement: true local disease gap.
IEMbase provides a compact future-curation profile centered on axial hypotonia, epilepsy, strabismus, ataxia, behavioral features, nystagmus, psychomotor delay, skeletal abnormalities, type I transferrin abnormalities, glycan-lipid intermediates, hypoglycemia-related insulin/ketone rows, and coagulation-factor abnormalities.
Curation actions
- Add a standalone ALG6-CDG target before treating this record as mapped.
- Do not map this record to ALG12-CDG, ALG9-CDG, or other local CDG entries solely because of shared type I CDG features.
- Preserve lipid-linked and dolichol-linked Man9GlcNAc2 rows as ALG6-relevant biochemical review prompts.