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[Metabolic disorders in patients with primary carbohydrate deficient glycoprotein syndrome]
1Zakład Biochemii Farmaceutycznej, Instytutu Chemii, Chorób Kobiecych Akademii Medycznej w Białymstoku.
Postepy Higieny I Medycyny Doswiadczalnej
|January 1, 1997
Abstract:
The carbohydrate-deficient glycoprotein syndromes are multisystemic inherited diseases with severe nervous system involvement. There is indirect evidence for deficiency of phosphomannomutase in type I and direct evidence for a deficiency of N-acetylglucosaminyltransferase II in type II. The disease is characterized by carbohydrate deficiencies of a number glycoproteins, including serum sialotransferrins.