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

D. A. Stumpf*, R. Sokol, D. Bettis, H. Neville, S. Ringel, C. Angelini, R. Bell

*Corresponding author for this work

Research output: Contribution to journalArticle

43 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)68-74
Number of pages7
JournalNeurology
Volume37
Issue number1
DOIs
StatePublished - Jan 1987

ASJC Scopus subject areas

  • Clinical Neurology

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