Carbohydrate-deficient glycoprotein syndrome type Ib -: Phosphomannose isomerase deficiency and mannose therapy
Carbohydrate-deficient glycoprotein syndrome type Ib -: Phosphomannose isomerase deficiency and mannose therapy
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DOI：
10.1172/jci2350
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发表时间：
1998-04-01
影响因子：
15.9
通讯作者：
Marquardt, T
中科院分区：
文献类型：
--
作者：
Niehues, R;Hasilik, M;Marquardt, T
磷酸甘糖异构酶（PMI）缺乏是一种新型糖缺乏糖蛋白综合征（CDGS）的病因。该疾病是由PMI1基因突变引起的，临床表型以蛋白质丧失性肠病为特征，而其他类型的CDGS没有普遍的神经学表现，使用标准诊断程序，该疾病与CDGS Ia型（磷酸腺苷异构体酶缺乏症）难以区分。每日口服甘露糖是一种成功的治疗这种新的CDG综合征分类为CDGS型Ib。
Phosphomannose isomerase (PMI) deficiency is the cause of a new type of carbohydrate-deficient glycoprotein syndrome (CDGS). The disorder is caused by mutations in the PMI1 gene, The clinical phenotype is characterized by protein-losing enteropathy, while neurological manifestations prevailing in other types of CDGS are absent, Using standard diagnostic procedures, the disorder is indistinguishable from CDGS type Ia (phosphomannomutase deficiency). Daily oral mannose administration is a successful therapy fur this new type of CDG syndrome classified as CDGS type Ib.