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Ataxia with isolated vitamin E deficiency: A clinical, biochemical and genetic diagnosis
Author(s) -
Alex G,
Oliver Mr,
Collins Kj
Publication year - 2000
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1046/j.1440-1754.2000.00534.x
Subject(s) - medicine , ataxia , vitamin e deficiency , malabsorption , vitamin , mutation , vitamin e , endocrinology , pediatrics , gene , physiology , genetics , antioxidant , biochemistry , psychiatry , biology
: 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 (α) 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.