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[Endogenous ochronosis: a case description].

José L Díaz-Ramón·Begoña Aseguinolaza·María Rosario González-Hermosa·Ricardo González-Pérez·Blanca Catón·Ricardo Soloeta
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Abstract

Endogenous ochronosis or alkaptonuria is an autosomal recessive disease caused by a deficiency of the enzyme homogentisic acid oxidase. Affected individuals excrete high levels of homogentisic acid in the urine, which darkens when it is alkalinized or oxidized. Deposits of blackish-brown pigment also occur in connective tissue; this causes, usually starting around the age of 40, the typical external manifestations of this disease, along with disorders in other organs. We present a clinical case of endogenous ochronosis, a very infrequent disease in our milieu. We will discuss the most noteworthy features of the case.

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José L Díaz-Ramón, Begoña Aseguinolaza, María Rosario González-Hermosa, Ricardo González-Pérez, Blanca Catón, Ricardo Soloeta. 2005. [Endogenous ochronosis: a case description].. https://doi.org/10.1016/s0001-7310(05)73125-2

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