Title :
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised
N-acetyl-glucosaminyltransferase II
Abstract :
- The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement
- This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991
- Both these patients are therefore designated CDG syndrome type II
- Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia
- The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction
- The serum disialotransferrin , studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3)[Man(alpha 1-->6)]Man(beta 1-->4)GlcNAc (beta 1-->4)GlcNAc-Asn Asn per mole of transferrin
- A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II (EC 2.4.1.143) was demonstrated in fibroblasts