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Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

Year: 2025

Type: article

Abstract: Alkaptonuria is a rare autosomal recessive disorder of phenylalanine/ tyrosine metabolism. We present a case report of a 78-year-old woman treated for urosepsis complicated due to renal stones and found to have alkaptonuria. Alkaptonuria is common among children and young adults but in our case it was detected in an elderly female.

Source: Asian Journal of Internal Medicine

DOI: 10.4038/ajim.v4i1.243

Authors: S. Madhuwantha, S. Ghetheeswaran, E. Jasinghe, R. Mathanky

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4408311142

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