ALG8-CDG

What is ALG8-CDG?

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 <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation.

Other condition names

  • 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
  • Glucosyltransferase 2 deficiency

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.