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口服甘露糖成功治疗1b型碳水化合物缺乏糖蛋白综合征。

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.

作者信息

Hendriksz C J, McClean P, Henderson M J, Keir D G, Worthington V C, Imtiaz F, Schollen E, Matthijs G, Winchester B G

机构信息

Children's Liver and GI Unit, Department of Paediatrics, St James's University Hospital, Beckett Street, Leeds LS9 7TF, UK.

出版信息

Arch Dis Child. 2001 Oct;85(4):339-40. doi: 10.1136/adc.85.4.339.

DOI:10.1136/adc.85.4.339
PMID:11567948
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1718944/
Abstract

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.

摘要

一名亚洲女孩出现生长发育迟缓、先天性肝纤维化、蛋白丢失性肠病和低血糖症状。皮肤成纤维细胞中的磷酸甘露糖异构酶活性降低。她的磷酸甘露糖异构酶基因（PM1）存在D131N突变的纯合子，符合1b型碳水化合物缺乏糖蛋白综合征的诊断。她对口服甘露糖治疗有反应。

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