B4GALT1-congenital disorder of glycosylation
B4GALT1-congenital disorder of glycosylation
Definition
B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
Also known as B4GALT1-CDG, B4GALT1-congenital disorder of glycosylation, Beta-1,4-galactosyltransferase deficiency, carbohydrate deficient glycoprotein syndrome type IId, CDG syndrome type IId, CDG-IId, CDG2D, congenital disorder of glycosylation type 2d, congenital disorder of glycosylation type IId — per MONDO