MeSH Browser

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 Introduced: 1966/01/01
Last Updated: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0000717
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.
Terms: Alkaptonuria Preferred Term
Term UI T001410
Date01/01/1999
LexicalTag NON
ThesaurusID; Alcaptonuria
Term UI T727008
Date09/25/2008
LexicalTag NON
ThesaurusID; Homogentisic Acid Oxidase Deficiency
Term UI T811409
Date11/15/2011
LexicalTag NON
ThesaurusID; Homogentisic Acidura
Term UI T840854
Date04/18/2013
LexicalTag NON
ThesaurusID

Alkaptonuria MeSH Descriptor Data 2026