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Cerebellar ataxia due to isolated vitamin E deficiency.
Indian J Med Sci ; 2005 Jan; 59(1): 20-3
Artículo en Inglés | IMSEAR | ID: sea-66941
ABSTRACT
Ataxia is a common and important neurological finding in medical practice. Severe deficiency of Vitamin E can profoundly affect the central nervous system and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia. Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease or fat malabsorption. Ataxia with isolated Vit E deficiency (AVED) is an Autosomal Recessive genetic disorder with a mutation in the alpha tocopherol transfer protein gene (TTPA). This condition responds to high dose of Vit E and is one of the important causes of treatable ataxia. We report a young patient with Ataxia with isolated Vit E deficiency (AVED) who responded partially to replacement of Vitamin E.
Asunto(s)
Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Deficiencia de Vitamina E / Femenino / Humanos / Proteínas Portadoras / Ataxia Cerebelosa / Adolescente Idioma: Inglés Revista: Indian J Med Sci Año: 2005 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Deficiencia de Vitamina E / Femenino / Humanos / Proteínas Portadoras / Ataxia Cerebelosa / Adolescente Idioma: Inglés Revista: Indian J Med Sci Año: 2005 Tipo del documento: Artículo