Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene

被引：46

作者：

Hussain, K

Clayton, PT

Krywawych, S

Chatziandreou, I

Mills, P

Ginbey, DW

Geboers, AJJM

Berger, R

Van den Berg, IET

Eaton, S

机构：

[1] UCL, Unit Biochem Endocrinol & Metab, Inst Child Hlth, London Ctr Paediat Endocrinol & Metab, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, London WC1N 3JH, England

[3] Univ Utrecht, Med Ctr, Dept Metab & Endocrine Dis, E Utrecht, Netherlands

来源：

JOURNAL OF PEDIATRICS | 2005年 / 146卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2005.01.032

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-COA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.

引用

页码：706 / 708

页数：3

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