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
Neurologyjournal_title
Neurologyauthors
Stumpf DA,Sokol R,Bettis D,Neville H,Ringel S,Angelini C,Bell Rdoi
10.1212/wnl.37.1.68subject
Has Abstractpub_date
1987-01-01 00:00:00pages
68-74issue
1eissn
0028-3878issn
1526-632Xjournal_volume
37pub_type
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