title: Vitamin E deficiency in Werdnig-Hoffmann disease.
abstract: Vitamin E levels were measured in the plasma of infants and children with various neuromuscular disorders. Seven of 8 infants with Werdnig-Hoffmann disease (WHD) had a significantly lower plasma vitamin E level (p less than 0.01) than age-matched normal controls, children with congenital myopathies, or children with muscular dystrophy. Vitamin E deficiency in WHD is not caused by malabsorption. A therapeutic trial of vitamin E in 3 patients with WHD did not change the natural course of the disease. Vitamin E deficiency may play a role in the pathogenesis of WHD.
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D009133:Muscular Atrophy / Q000097:blood / Q000150:complications* / Q000235:genetics; D009468:Neuromuscular Diseases / Q000097:blood; D014810:Vitamin E / Q000097:blood; D014811:Vitamin E Deficiency / Q000150:complications*
chemical_list: D014810:Vitamin E