Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption.

Abstract:

:A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total serum lipid were very low, but serum vitamin A, cholylglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Muscle biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondria had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.

journal_name

Neurology

journal_title

Neurology

authors

Stumpf DA,Sokol R,Bettis D,Neville H,Ringel S,Angelini C,Bell R

doi

10.1212/wnl.37.1.68

subject

Has Abstract

pub_date

1987-01-01 00:00:00

pages

68-74

issue

1

eissn

0028-3878

issn

1526-632X

journal_volume

37

pub_type

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