N-acetylglucosaminyltransferase deficiency

The CDG (Congenital Disorders of Glycosylation) Syndromes are a group of Autosomal recessive Disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterized by severe psychomotor delay, postnatal Growth retardation, Facial dysmorphology and Bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 Gene (localized to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II).

Also Known As

  • Carbohydrate deficient glycoprotein syndrome type 2A
  • Congenital disorder of glycosylation type 2A
  • CDG - [[Congenital disorder of glycosylation] syndrome type 2A
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