Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

M Jackson; P Clayton; S Grunewald; G Keir; K Mills; P Mills; B Winchester; V Worthington; E Young

doi:10.1007/s10545-005-0157-z

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

J Inherit Metab Dis. 2005;28(6):1197-8. doi: 10.1007/s10545-005-0157-z.

Authors

M Jackson¹, P Clayton, S Grunewald, G Keir, K Mills, P Mills, B Winchester, V Worthington, E Young

Affiliation

¹ The Enzyme Laboratory, Great Ormond Street Hospital NHS Trust, London, UK.

PMID: 16435229
DOI: 10.1007/s10545-005-0157-z

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).

MeSH terms

Aspartylglucosylaminase / blood*
Aspartylglucosylaminase / genetics
Aspartylglucosylaminase / 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

Substances

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