5C50.10 Alkaptonuria
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
synonyms
- Alkaptonuria
- Ochronosis
- Homogentisic acid oxidase deficiency
- Homogentisate 1,2-dioxygenase deficiency
- alcaptonuria
- homogentisicaciduria
- deficiency of homogentisicase
- deficiency of homogentisate oxygenase
- Endogenous ochronosis
- Ochronotic arthritis
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