Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation

Abstract

Aim of study was to establish a method for determining the activity of phosphomannomutase 2 (PMM2) and phosphomannose isomerase (PMI) as a control enzyme in isolated lymphocytes and cultured skin fibroblasts and use it as a differential diagnostic step in a group of 18 patients with suspected CDG syndrome type I.

Keywords

• congenital disorders of glycosylation (CDG)
• phosphomannomutase (PMM2)
• phosphomannose isomerase (PMI)