ALG6-CDG
Engelsk navn: ALG6-CDG
Engelske synonym: 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
Definisjon
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).
Fra Orphanet
ORPHA: 79320
Klassifiseringsnivå: Disorder
ICD-10: E77.8
