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A Case of Homocystinuria with Ectopia Lentis
Journal of the Korean Ophthalmological Society ; : 110-115, 1991.
Artículo en Coreano | WPRIM | ID: wpr-176823
ABSTRACT
Homocystinuria is an inborn error on the pathway of the methionine metabolism. It is mainly caused by a cystathionine B-synthase deficiency in the brain or liver. Homocystinuria is biochemically characterized by 1) an increase of the homocystine and methionine concentration in the plasma; and 2) a decrease of the cystine with an increased excretion of homocystine in the urine. The clinical manifestations of this autosomal recessive disorder include ectopoia lentis, skeletal abnormalities, high incidence of thromboembolism and high frequency of mental retardation. We have been experiencing a case of a 10 year old female patient who has suffered from homocystinuria. She has undergone mental retardation, poor vision caused by ocular complications and Marfanoid feautures.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Plasma / Tromboembolia / Encéfalo / Desplazamiento del Cristalino / Incidencia / Cistationina / Cistina / Homocistina / Homocistinuria / Hígado Tipo de estudio: Estudio de incidencia / Estudio pronóstico Límite: Niño / Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Ophthalmological Society Año: 1991 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Plasma / Tromboembolia / Encéfalo / Desplazamiento del Cristalino / Incidencia / Cistationina / Cistina / Homocistina / Homocistinuria / Hígado Tipo de estudio: Estudio de incidencia / Estudio pronóstico Límite: Niño / Femenino / Humanos Idioma: Coreano Revista: Journal of the Korean Ophthalmological Society Año: 1991 Tipo del documento: Artículo