isolated vitamin E deficiency
Definition: an autosomal recessive ataxia having a close resemblance to Friedreich ataxia but instead is due to a mutation in the gene coding for the a-tocopherol transfer protein, (a-TTP), a protein involved in the hepatic processing of vitamin E.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.