Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis

被引：10

作者：

Alex, G

Oliver, MR

Collins, KJ

机构：

[1] Royal Childrens Hosp, Dept Gastroenterol, Parkville, Vic 3052, Australia

[2] Royal Childrens Hosp, Dept Neurol, Parkville, Vic 3052, Australia

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2000年 / 36卷 / 05期

关键词：

ataxia; spinocerebellar degeneration; vitamin E;

D O I：

10.1046/j.1440-1754.2000.00534.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A case of ataxia with isolated vitamin E deficiency, in conjunction with supportive genetic studies, is reported. This is a neurodegenerative condition that involves a mutation in the tocopherol (alpha) transfer protein gene (TTPA). Measurement of serum vitamin E concentration should be included as part of the investigations in children with progressive ataxia, even in the absence of fat malabsorption. Early treatment with vitamin E may protect such patients against further neurological damage.

引用

页码：515 / +

页数：2

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