Endogenous ochronosis: a case description

Endogenous ochronosis: a case description

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 als...

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Bibliographic Details
Published in:Actas dermo-sifiliográficas Vol. 96; no. 8; p. 525
Main Authors: Díaz-Ramón, José L, Aseguinolaza, Begoña, González-Hermosa, María Rosario, González-Pérez, Ricardo, Catón, Blanca, Soloeta, Ricardo
Format: Journal Article
Language:Spanish
Published: Spain 01-10-2005
Subjects:
Humans
Male
Middle Aged
Ochronosis - diagnosis
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Description
Summary: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.
ISSN:0001-7310
DOI:10.1016/S0001-7310(05)73125-2