eISSN: 2084-9834
ISSN: 0034-6233
Reumatologia/Rheumatology
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4/2012
vol. 50
 
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abstract:
Review paper

The clinical picture of alkaptonuria and ochronosis

Jozef Rovenský
,
Tibor Urbánek
,
Mária Stančikova

Reumatologia 2012; 50, 4: 324–335
Online publish date: 2012/09/07
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Alkaptonuria (ochronosis) is an inherited disorder of metabolism of aromatic amino acids phenylalanine and tyrosine, due to the lack of activity of the enzyme homogentisate 1,2-dioxygenase. The homogentisic acid is not metabolized, accumulates in the body and is excreted into the urine. The polymer – ochronotic pigment – impregnates bradytrophic tissues. Alkaptonuria is characterized by homogentisic acid accumulation in the body, the presence of homogentisic acid in urine, visible, functionally benign symptoms of eyes and ears, and debilitating changes in the locomotor system.
keywords:

alkaptonuria, ochronosis, pathogenesis, clinical picture, treatment



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