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A case of alkaptonuria: the first case in Korea / 소아과
Korean Journal of Pediatrics ; : 329-331, 2006.
Artículo en Inglés | WPRIM | ID: wpr-96042
ABSTRACT
Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of the urine upon standing. The disease leads to such serious consequences as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic acid and a dietary restriction of protein may decrease the late and serious consequences by diminishing the serum concentration of the metabolite benzoquinone acetic acid. A thirteen month-old girl was recently diagnosed with alkaptonuria by urine organic acid analysis. She excreted pinkish urine on a diaper and as time went by the urine color changed to a light brown. In laboratory findings, urine examination and culture results were normal. But urine organic acid analysis detected abnormal findings a prominent and massive elevation of homogentisic acid. The other physical findings were normal. This is the first case diagnosed in Korea.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Artritis / Ácido Ascórbico / Cartílago / Tejido Conectivo / Ácido Acético / Alcaptonuria / Homogentisato 1,2-Dioxigenasa / Ácido Homogentísico / Corea (Geográfico) / Enfermedades Metabólicas Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Korean Journal of Pediatrics Año: 2006 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Artritis / Ácido Ascórbico / Cartílago / Tejido Conectivo / Ácido Acético / Alcaptonuria / Homogentisato 1,2-Dioxigenasa / Ácido Homogentísico / Corea (Geográfico) / Enfermedades Metabólicas Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Korean Journal of Pediatrics Año: 2006 Tipo del documento: Artículo