isolated vitamin E deficiency

isolated vitamin E deficiency

an autosomal recessive ataxia having a close resemblance to Friedreich ataxia but instead is due to a mutation in the gene coding for the α-tocopherol transfer protein, (α-TTP), a protein involved in the hepatic processing of vitamin E.

i·so·la·ted vi·ta·min E de·fi·cien·cy

(īsŏ-lā-tĕd vītă-min dĕ-fishĕn-sē) Ataxia due to a mutation in the gene coding for the α-tocopherol transfer protein, (α-TTP).