Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).
Elevated plasma aspartylglucosaminidase activity was found in 21/25 cases of CDG Ia, in single cases of CDG Ib, Ic and If, and in 15/16 cases of CDG Ix. The CDG I patients in whom the activity was not raised were either atypical clinically (CDG Ia) or very young (CDG Ih).
Jackson
M
M
The Enzyme Laboratory, Great Ormond Street Hospital NHS Trust, London, UK.
Clayton
P
P
Grunewald
S
S
Keir
G
G
Mills
K
K
Mills
P
P
Winchester
B
B
Worthington
V
V
Young
E
E
D001227:Aspartylglucosylaminase / Q000097:blood* / Q000235:genetics / Q000378:metabolism; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood*; D005347:Fibroblasts / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D050356:Lipid Metabolism; D008055:Lipids / Q000737:chemistry; D008359:Mannose-6-Phosphate Isomerase / Q000235:genetics; D009844:Oligosaccharides / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics; D013997:Time Factors
D008055:Lipids; D009844:Oligosaccharides; D001227:Aspartylglucosylaminase; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase