Abstract
Alkaptonuria is a rare metabolic disorder in the catabolic pathway of phenylalanine and tyrosine, which is characterized by excessive release of homogentisic acid in the urine, ochronosis and arthropathy of the spine and large joints. The population frequency of alkaptonuria is 1 case per 250,000 – 1,000,000 people. The autosomal recessive nature of inheritance, which often does not result in family accumulation, and the late development of clinical symptoms (after 40 years) lead to practitioners rarely encountering this pathology and not having indications of familial or congenital nature of the disease makes it difficult to make a diagnosis. It is necessary to raise awareness among healthcare professionals about the symptoms of alkaptonuria, diagnostic methods, and management of patients with this disease. In this article, we describe the case of a 59-year-old man with severe clinical manifestations of alkaptonuria.
Keywords: alkaptonuria, arthritis, dark urine, homogentisic acid, pigmentation, congenital metabolic disorders, clinical case.
Keywords: alkaptonuria, arthritis, dark urine, homogentisic acid, pigmentation, congenital metabolic disorders, clinical case.
For citation:Nikitin N.M., Gromova M.A., Bolotnikov M.A., Biryuk E.S. Previously undiagnosed tyrosine metabolism disorder – alkaptonuria (a clinical case). Clinical review for general practice. 2025; 6 (10): 94–100 (In Russ.). DOI: 10.47407/kr2025.6.10.00698
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