Sheik, Samreen M and Shetty, Prajna P and Nalini, K and Varashree, BS (2018) Accidental diagnosis of alkaptonuria in a suspected case of mucopolysaccharidosis. Scholars Journal of Medical Case Reports, 6 (4). pp. 252-255. ISSN 2347-9507

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Abstract

Alkaptonuria is a very rare genetic disorder characterized by the lack of enzyme homogentisate oxidase in tyrosine metabolism. This leads to the accumulation of homogentisic acid in cells and body fluids. The clinical feature includes arthritis, ochronosis which is the pigmentation of cartilage and darkening of urine on standing. The disease is usually diagnosed by assessment of signs and symptoms of ochronosis and confirmation of suspected diagnosis can be achieved by detection of homogentisic acid in urine with increase in amino acid tyrosine in plasma. In this case study, the disease is diagnosed by silver nitrate test followed by ferric chloride test. Further confirmation was done by amino acid analysis using high performance liquid chromatography (HPLC).

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