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Alkaptonuria diagnosed in a one year old boy: a case report
Authors:
Hewa Warawitage Dilanthi ,
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, LK
About Hewa
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka
Grace Angeline Malarnangai Kularatnam,
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, LK
About Grace
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka
Subhashinie Jayasena,
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, LK
About Subhashinie
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka
Eresha Jasinge,
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka, LK
About Eresha
Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka
Shamya de Silva
Department of Paediatrics, Faculty of Medicine, University of Colombo, Sri Lanka, LK
About Shamya
Department of Paediatrics, Faculty of Medicine, University of Colombo, Sri Lanka
Abstract
Introduction Alkaptonuria is an autosomal recessive disorder with an estimated incidence of 1 in 250,000 to 1 million live births. Due to a deficiency of the enzyme homogentisic acid oxidase (HGO), homogentisic acid (HGA) cannot be further metabolized and results in accumulation of HGA and its oxidative metabolites in blood, connective tissue and urine, causing a triad of homogentisic aciduria, ochronosis and arthritis. We report a case which was biochemically confirmed by quantifying HGA in urine.
How to Cite:
Dilanthi, H.W., Kularatnam, G.A.M., Jayasena, S., Jasinge, E. and de Silva, S., 2016. Alkaptonuria diagnosed in a one year old boy: a case report. Sri Lanka Journal of Child Health, 45(4), pp.291–293. DOI: http://doi.org/10.4038/sljch.v45i4.8037
Published on
05 Dec 2016.
Peer Reviewed
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