title: Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).
abstract: 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).
authors.affiliation: The Enzyme Laboratory, Great Ormond Street Hospital NHS Trust, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Jackson
authors.forename: P
authors.initials: P
authors.lastname: Clayton
authors.forename: S
authors.initials: S
authors.lastname: Grunewald
authors.forename: G
authors.initials: G
authors.lastname: Keir
authors.forename: K
authors.initials: K
authors.lastname: Mills
authors.forename: P
authors.initials: P
authors.lastname: Mills
authors.forename: B
authors.initials: B
authors.lastname: Winchester
authors.forename: V
authors.initials: V
authors.lastname: Worthington
authors.forename: E
authors.initials: E
authors.lastname: Young
mesh_terms: 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
chemical_list: D008055:Lipids; D009844:Oligosaccharides; D001227:Aspartylglucosylaminase; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase