Glucosyltransferase 1 deficiency (Q94035)

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase.