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.

Farlex Partner Medical Dictionary © Farlex 2012

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).

Medical Dictionary for the Dental Professions © Farlex 2012

References in periodicals archive

Isolated vitamin E deficiency in the absence of fat malabsorption: familial and sporadic cases, characterization and investigation of causes.

Ataxia with isolated vitamin E deficiency is caused by mutations in the [alpha]-tocopherol transfer protein.

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.

Serum vitamin E and lipid-adjusted vitamin E assessment in Friedreich ataxia phenotype patients and unaffected family members

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