[Metabolic disorders in patients with primary carbohydrate deficient glycoprotein syndrome].
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.
Zwierz
K
K
Zakład Biochemii Farmaceutycznej, Instytutu Chemii, Chorób Kobiecych Akademii Medycznej w Białymstoku.
Midro
A T
AT
D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis / Q000378:metabolism*; D006801:Humans; D017351:N-Acetylglucosaminyltransferases / Q000172:deficiency; D010733:Phosphoglucomutase / Q000172:deficiency; D017875:Phosphotransferases (Phosphomutases) / Q000172:deficiency
D017351:N-Acetylglucosaminyltransferases; C063312:beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; D017875:Phosphotransferases (Phosphomutases); D010733:Phosphoglucomutase; C052799:phosphomannomutase
Zaburzenia metabolizmu u chorych z pierwotnym zespołem niedoborów cukrowych glikoprotein (CDG).