ALG8-congenital disorder of glycosylation

A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

Also known as: ALG8-CDG, ALG8-congenital disorder of glycosylation, CDG syndrome type Ih, CDG-Ih, CDG1H, carbohydrate deficient glycoprotein syndrome type Ih, congenital disorder of glycosylation type 1h, congenital disorder of glycosylation type Ih

26 clinical trials for this condition and its sub-types.