Outcome of tyrosinaemia type III.

Ellaway, C J; Holme, E; Standing, S; Preece, M A; Green, A; Ploechl, E; Ugarte, M; Trefz, F K; Leonard, J V

Ellaway, C J; Holme, E; Standing, S; Preece, M A; Green, A; Ploechl, E; Ugarte, M; Trefz, F K; Leonard, J V.

Afiliación

Ellaway CJ; Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK.

J Inherit Metab Dis ; 24(8): 824-32, 2001 Dec.

Article en En | MEDLINE | ID: mdl-11916315

RESUMEN

Tyrosinaemia type III is a rare disorder caused by a deficiency of 4-hydroxyphenylpyruvate dioxygenase, the second enzyme in the catabolic pathway of tyrosine. The majority of the nine previously reported patients have presented with neurological symptoms after the neonatal period, while others detected by neonatal screening have been asymptomatic. All have had normal liver and renal function and none has skin or eye abnormalities. A further four patients with tyrosinaemia type III are described. It is not clear whether a strict low tyrosine diet alters the natural history of tyrosinaemia type III, although there remains a suspicion that treatment may be important, at least in infancy.

Asunto(s)

Tirosinemias/dietoterapia; Tirosinemias/etiología; 4-Hidroxifenilpiruvato Dioxigenasa/deficiencia; Adolescente; Niño; Preescolar; Femenino; Humanos; Lactante; Recién Nacido; Inteligencia; Masculino; Tamizaje Neonatal; Resultado del Tratamiento; Tirosina/sangre; Tirosinemias/diagnóstico; Tirosinemias/psicología

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Tirosinemias Tipo de estudio: Diagnostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2001 Tipo del documento: Article Pais de publicación: Estados Unidos

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