First report of alkaptonuria in Peru


  • Daniel Guillén-Mendoza Facultad de Medicina, Universidad Peruana Cayetano Heredia. Lima, Perú.
  • María Quiroga de Michelena Facultad de Medicina, Universidad Peruana Cayetano Heredia. Lima, Perú. Genética. Instituto de Medicina Genética. Lima, Perú.



Alkaptonuria, Metabolism, Homogentisic acid


Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth. For 9 years she presented a greenish pigmentation in her nail beds that did not improve with antifungal treatments, and in the last 9 months she showed worsening large joint osteoarthritis. This situation forced her to use a wheelchair due to the intense pain caused by osteoarthritis in her hips and lumbar spine. From the description of symptoms, her urinary HGA was measured which confirmed the diagnosis of alkaptonuria. Analgesics and a diet without tyrosine-containing products were suggested. The patient was also referred for hip replacement surgery. This is the first reported case of alkaptonuria in Peru.


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Case Report

How to Cite

Guillén-Mendoza D, Quiroga de Michelena M. First report of alkaptonuria in Peru. Rev Peru Med Exp Salud Publica [Internet]. 2014 Dec. 2 [cited 2024 May 23];31(4). Available from:

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