Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency.
case_report · Level V
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- Record sourced from PubMed, PMID 9931538.
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Abstract
Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete.
Medical subject headings
- Ataxia
- Carrier Proteins
- Vitamin E Deficiency