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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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