| Literature DB >> 9931538 |
M Schuelke1, E Mayatepek, M Inter, M Becker, E Pfeiffer, A Speer, C Hübner, B Finckh.
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.Entities:
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Year: 1999 PMID： 9931538 DOI： 10.1016/s0022-3476(99)70424-5
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406