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Indian J Hum Genet ; 2013 Apr; 19(2): 259-261
Artículo en Inglés | IMSEAR | ID: sea-149438

RESUMEN

Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a β-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of β-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.


Asunto(s)
Alcaptonuria/diagnóstico , Alcaptonuria/epidemiología , Consanguinidad , Homogentisato 1,2-Dioxigenasa , Ácido Homogentísico , Humanos , Lactante , Masculino , Orina/química , Talasemia beta/diagnóstico , Talasemia beta/epidemiología
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