Diseases

Alkaptonuria

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

4 entry terms
  • Alcaptonuria
  • Homogentisic Acid Oxidase Deficiency
  • Homogentisic Acidura
  • Alcaptonurias

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Hierarchy

Tree Numbers

  1. C16w.320w.565w.100.187w
  2. C18.452w.648w.100.187w

AMA Style

References

  1. National Library of Medicine. Alkaptonuria. Medical Subject Headings (MeSH). 2026. Unique ID D000474. http://id.nlm.nih.gov/mesh/2026/D000474
  2. Alkaptonuria. In: Wikipedia. https://en.wikipedia.org/wiki/Alkaptonuria
  3. Alkaptonuria. In: Wikidata. https://www.wikidata.org/wiki/Q651680