Early diagnosis of co-existent ß-thalassemia and alkaptonuria.
Indian J Hum Genet
;
2013 Apr; 19(2): 259-261
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Urine
/
Humains
/
Mâle
/
Bêta-Thalassémie
/
Consanguinité
/
Alcaptonurie
/
Homogentisate 1,2-dioxygenase
/
Acide homogentisique
/
Nourrisson
Type d'étude:
Etude diagnostique
/
Étude de dépistage
langue:
Anglais
Texte intégral:
Indian J Hum Genet
Année:
2013
Type:
Article
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