Glucosyltransferase 2 deficiency (Q94033)

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase.