ataxia with isolated vitamin E deficiency(redirected from Ataxia, Friedreich-like, with selective vitamin E deciency)
ataxia with isolated vitamin E deficiencyAn 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.
Defects of TTPA, which encodes a protein that selectively and tightly binds alpha-trocopherol (vitamin E), cause ataxia with vitamin E deficiency.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.