| CASE REPORT |
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| Year : 2013 | Volume
: 19
| Issue : 2 | Page : 259-261 |
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Early diagnosis of co-existent ß-thalassemia and alkaptonuria
Moushumi Lodh1, Joshi A Kerketta2
1 Department of Biochemistry, The Mission Hospital, Durgapur, West Bengal, India
2 Department of Paediatrics and Neonatology, The Mission Hospital, Durgapur, West Bengal, India
Correspondence Address:
Moushumi Lodh
Department of Biochemistry, Institute of Lab Medicine and Research, The Mission Hospital, Immon Kalyan Sarani, Sector 2C, Bidhannagar, Durgapur - 713 212, West Bengal
India
 Source of Support: None, Conflict of Interest: None  | 1 |
DOI: 10.4103/0971-6866.116104
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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. |
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