Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
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DOI：
10.1016/0014-5793(95)01357-1
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发表时间：
1995-12-27
期刊：
影响因子：
3.5
通讯作者：
Jaeken, J
中科院分区：
文献类型：
--
作者：
VanSchaftingen, E;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 (less than or equal to 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.
