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.
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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