Alkaptonuria diagnosed in a one year old boy: a case report
By: Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Subhashinie Jayasena, Eresha Jasinge and Shamya de Silva
Open Access
|Dec 2016Abstract
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.
DOI: https://doi.org/10.4038/sljch.v45i4.8037 | Journal eISSN: 2386-110X
Language: English
Page range: 291 - 293
Published on: Dec 5, 2016
Published by: Sri Lanka College of Paediatricians
In partnership with: Paradigm Publishing Services
© 2016 Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Subhashinie Jayasena, Eresha Jasinge, Shamya de Silva, published by Sri Lanka College of Paediatricians
This work is licensed under the Creative Commons License.