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: M Jackson, P Clayton, S Grunewald, G Keir, K Mills, P Mills, B Winchester, V Worthington, E Young
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 28 Issue 6 Pg. 1197-8 ( 2005) ISSN: 0141-8955 [Print] United States
• PMID: 16435229 (Publication Type: Journal Article)

Chemical References

• Lipids
• Oligosaccharides
• Aspartylglucosylaminase
• Mannose-6-Phosphate Isomerase
• Phosphotransferases (Phosphomutases)
• phosphomannomutase

Topics

• Aspartylglucosylaminase (blood, genetics, metabolism)
• Carbohydrate Metabolism, Inborn Errors (blood)
• Fibroblasts (metabolism)
• Glycosylation
• Humans
• Leukocytes (metabolism)
• Lipid Metabolism
• Lipids (chemistry)
• Mannose-6-Phosphate Isomerase (genetics)
• Oligosaccharides (metabolism)
• Phosphotransferases (Phosphomutases) (genetics)
• Time Factors