ataxia with isolated vitamin E deficiency

(redirected from familial isolated deficiency of vitamin E)

ataxia with isolated vitamin E deficiency

An autosomal recessive disorder (OMIM:277460) characterised by spinocerebellar degeneration, ataxia and peripheral neuropathy resembling Friedreich’s ataxia, and markedly reduced plasma levels of vitamin E.

Molecular pathology
Defects of TTPA, which encodes a protein that selectively and tightly binds alpha-trocopherol (vitamin E), cause ataxia with vitamin E deficiency.
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