Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.
(1995) FEBS Letters — Vol. 377, n° 3, p. 318-320 (1995)
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- Abstract
- 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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Van Schaftingen, E., & Jaeken, J. (1995). Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Letters, 377(3), 318-320. https://doi.org/10.1016/0014-5793(95)01357-1 (Original work published 1995)