Alkaptonuria
Journal Title: Medical Journal Armed Forces - Year 2018, Vol 74, Issue 4
Abstract
Alkaptonuria is a rare autosomal recessive (AR) metabolic disorder occurring due to deficiency of the enzyme homogentisate 1,2 dioxygenase which is involved in the metabolism of tyrosine. Deficiency of the enzyme results in binding of the oxidised polymers of homogentisic acid (HGA) to connective tissue and its excretion in the urine. Presence of homogentisic acid in urine is responsible for the characteristic black coloration of urine on standing, while its deposition in connective tissue leads to bluish green discoloration.1
Authors and Affiliations
M. Bhatia
Keywords
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