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.
Highlights
Alkaptonuria is an autosomal recessive disorder with an estimated incidence of 1 in 250,000 to 1 million live births[1]
When urine was heated with Benedict reagent a dark supernatant and a yellow precipitate of cuprous oxide was formed which suggested the presence of homogentisic acid (HGA) (Figure 1). 1Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka; 2Department of Paediatrics, Faculty of Medicine, University of Colombo, Sri Lanka
Semi quantitative analysis of urine by gas chromatography / mass spectrometry performed in a reference laboratory in India revealed elevated levels of HGA
Summary
Alkaptonuria is an autosomal recessive disorder with an estimated incidence of 1 in 250,000 to 1 million live births[1]. Case report A one-year-old male infant born at term, presented with blackish discolouration of napkins moistened with urine when left unwashed for many hours. Child had been investigated for urinary tract infections and mother had been reassured. At presentation to Lady Ridgeway Hospital at one year of age he was thriving and developing normally and physical examination revealed no abnormality.
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