ALG6-CDG

What is ALG6-CDG?

A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene <i>ALG6</i> (1p31.3).

Other condition names

  • CDG syndrome type Ic
  • CDG-Ic
  • CDG1C
  • Carbohydrate deficient glycoprotein syndrome type Ic
  • Congenital disorder of glycosylation type 1c
  • Congenital disorder of glycosylation type Ic
  • Glucosyltransferase 1 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.