Van Schaftingen, Emile
[UCL]
Jaeken, J.
Carbohydrate-deficient glycoprotein (CDG) syndromes are genetic multisystemic disorders characterized by defective N-glycosylation of serum and cellular proteins. The activity of phosphomannomutase was markedly deficient (< or = 10% of the control activity) in fibroblasts, liver and/or leucocytes of 6 patients with CDG syndrome type I. Other enzymes involved in the conversion of glucose to mannose 1-phosphate, as well as phosphoglucomutase, had normal activities. Phosphomannomutase activity was normal in fibroblasts of 2 patients with CDG syndrome type II. Since this enzyme provides the mannose 1-phosphate required for the initial steps of protein glycosylation, it is concluded that phosphomannomutase deficiency, which is first reported here for higher organisms, is a cause, and most likely the major one, of CDG syndrome type I.
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| Bibliographic reference |
Van Schaftingen, Emile ; Jaeken, J.. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.. In: FEBS letters, Vol. 377, no. 3, p. 318-20 (1995) |
| Permanent URL |
http://hdl.handle.net/2078.1/21997 |
