ALG6-CDG (CDG-Ic)
Other Names: CDG 1C; CDG1C; Carbohydrate-deficient glycoprotein syndrome type 1C; Carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly); Carbohydrate-deficient glycoprotein syndrome, type V (formerly); CDGS5 (formerly); ALG6-CDG (CDG-Ic); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; ALG6-CDG; Carbohydrate deficient glycoprotein syndrome type Ic; CDG syndrome type Ic; CDG-Ic; Congenital disorder of glycosylation type 1c; Congenital disorder of glycosylation type Ic; Glucosyltransferase 1 deficiency
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).
NIH genetic and rare disease info[edit source]
ALG6-CDG (CDG-Ic) is a rare disease.
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