title: Early diagnosis of co-existent ß-thalassemia and alkaptonuria.
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.
authors.affiliation: Department of Biochemistry, The Mission Hospital, Durgapur, West Bengal, India.
authors.forename: Moushumi
authors.initials: M
authors.lastname: Lodh
authors.forename: Joshi A
authors.initials: JA
authors.lastname: Kerketta
keywords: Alkaptonuria; blackening of urine; homogentisic acid; β-thalassemia
references.citation: Cases J. 2008 Nov 13;1(1):308
references.pmid: 19014543
references.citation: J Assoc Physicians India. 2005 Dec;53:1017-8
references.pmid: 16572955
references.citation: Indian J Dermatol Venereol Leprol. 2005 May-Jun;71(3):189-91
references.pmid: 16394410
references.citation: Genet Couns. 2003;14(2):207-13
references.pmid: 12872815
references.citation: J Assoc Physicians India. 1983 Oct;31(10):676-8
references.pmid: 6671941
references.citation: Bioinformation. 2010 Jan 21;4(7):276-7
references.pmid: 20978599
references.citation: Blood. 1988 Mar;71(3):766-70
references.pmid: 3345345
references.citation: J Indian Med Assoc. 1985 Jun;83(6):208-11
references.pmid: 4078344
references.citation: East Mediterr Health J. 2008 May-Jun;14(3):745-6
references.pmid: 18720640
references.citation: Nat Genet. 1996 Sep;14(1):19-24
references.pmid: 8782815