Early diagnosis of co-existent ß-thalassemia and alkaptonuria.
Indian J Hum Genet
;
2013 Apr; 19(2): 259-261
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Urine
/
Humans
/
Male
/
Beta-Thalassemia
/
Consanguinity
/
Alkaptonuria
/
Homogentisate 1,2-Dioxygenase
/
Homogentisic Acid
/
Infant
Type of study:
Diagnostic study
/
Screening study
Language:
English
Journal:
Indian J Hum Genet
Year:
2013
Type:
Article
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