Early diagnosis of co-existent ß-thalassemia and alkaptonuria.
Indian J Hum Genet
;
2013 Apr; 19(2): 259-261
Artículo
en Inglés
| IMSEAR
| ID: sea-149438
ABSTRACT
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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Orina
/
Humanos
/
Masculino
/
Talasemia beta
/
Consanguinidad
/
Alcaptonuria
/
Homogentisato 1,2-Dioxigenasa
/
Ácido Homogentísico
/
Lactante
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Idioma:
Inglés
Revista:
Indian J Hum Genet
Año:
2013
Tipo del documento:
Artículo
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