Other Names: CDG 1H; CDG1H; ALG8-CDG (CDG-Ih); Congenital disorder of glycosylation, type Ih ; CDG syndrome type Ih; CDG-Ih; Carbohydrate deficient glycoprotein syndrome type Ih; Congenital disorder of glycosylation type 1h; Glucosyltransferase 2 deficiency; ALG8-CDG; Congenital disorder of glycosylation type Ih
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.
NIH genetic and rare disease info
ALG8-CDG (CDG-Ih) is a rare disease.