Friedreich's disease

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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, cholyglycine, and lipid levels were normal, as was an oral vitamin E tolerance test. Multiple biopsy showed the lysosomal inclusions of vitamin E deficiency. Mitochondrial had normal oxidative phosphorylation using polarographic assays. The cause of her vitamin E deficiency was unknown.