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J Paediatr Child Health. 2000 Oct;36(5):515-6.

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

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  • 1Department of Gastroenterology, Child Development and Rehabilitation, Royal Children's Hospital, Parkville, Victoria, Australia.


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.

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