Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis.
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.
Alex
G
G
Department of Gastroenterology, Child Development and Rehabilitation, Royal Children's Hospital, Parkville, Victoria, Australia. G.Alex@anatomy.unimelb.edu.au
Oliver
M R
MR
Collins
K J
KJ
D000293:Adolescent; D001259:Ataxia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017354:Point Mutation / Q000235:genetics; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000097:blood / Q000150:complications*
D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein; D014810:Vitamin E