Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1
K Panneerselvam, JR Etchison, F Skovby… - … and molecular medicine, 1997 - Elsevier
Patients with carbohydrate-deficient glycoprotein syndrome (CDGS) Type 1
underglycosylate many glycoproteins by failing to add entire N-linked carbohydrate chains
to them. The primary defect in these patients has been reported as a> 90% deficiency in
phosphomannomutase activity (PMM), the enzyme that converts mannose-6-phosphate to
mannose-1-phosphate. This lesion reduces both the amount and the size of the lipid-linked
oligosaccharide precursor. We have now analyzed the activity of PMM and the level of …
underglycosylate many glycoproteins by failing to add entire N-linked carbohydrate chains
to them. The primary defect in these patients has been reported as a> 90% deficiency in
phosphomannomutase activity (PMM), the enzyme that converts mannose-6-phosphate to
mannose-1-phosphate. This lesion reduces both the amount and the size of the lipid-linked
oligosaccharide precursor. We have now analyzed the activity of PMM and the level of …