ALG6-congenital disorder of glycosylation 1C
ALG6-congenital disorder of glycosylation 1C
Definition
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 ALG6 (1p31.3).
Also known as ALG6 congenital disorder of glycosylation, ALG6-CDG (CDG-Ic), ALG6-CDG1C, ALG6-congenital disorder of glycosylation 1C, carbohydrate deficient glycoprotein syndrome type Ic, CDG syndrome type Ic, CDG-Ic, CDG1C, CDGIc, congenital disorder of glycosylation caused by mutation in ALG6, congenital disorder of glycosylation type 1C, congenital disorder of glycosylation type Ic, glucosyltransferase 1 deficiency — per MONDO