NLM Logo

Alkaptonuria MeSH Descriptor Data 2023


MeSH Heading
Alkaptonuria
Tree Number(s)
C16.320.565.100.187
C18.452.648.100.187
Unique ID
D000474
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000474
Scope Note
An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS.
Entry Term(s)
Alcaptonuria
Homogentisic Acid Oxidase Deficiency
Homogentisic Acidura
See Also
Homogentisate 1,2-Dioxygenase
Date Established
1966/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Alkaptonuria Preferred
page delivered in 0.188s