Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption.
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.
D000328:Adult; D001706:Biopsy; D005223:Fats / Q000378:metabolism; D005260:Female; D006801:Humans; D009132:Muscles / Q000473:pathology*; D009207:Myoclonus / Q000145:classification / Q000378:metabolism*; D014811:Vitamin E Deficiency / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology
D005223:Fats