Ib型糖缺乏糖蛋白综合征。磷酸甘露糖异构酶缺乏与甘露糖治疗。
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.
作者信息
Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch H G, Zimmer K P, Wu R, Harms E, Reiter K, von Figura K, Freeze H H, Harms H K, Marquardt T
机构信息
Klinik und Poliklinik für Kinderheilkunde, 48149 Münster, Germany.
出版信息
J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350.
Abstract
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 for this new type of CDG syndrome classified as CDGS type Ib.
摘要
磷酸甘露糖异构酶（PMI）缺乏症是一种新型碳水化合物缺乏性糖蛋白综合征（CDGS）的病因。该病症由PMI1基因突变引起。临床表型的特征为蛋白丢失性肠病，而其他类型CDGS中常见的神经学表现并不存在。使用标准诊断程序，该病症与Ia型CDGS（磷酸甘露糖变位酶缺乏症）无法区分。每日口服甘露糖是治疗这种归类为Ib型CDGS的新型CDG综合征的成功疗法。
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