Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

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.

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Publication Details

Journal
Asian Journal of Internal Medicine
Published
2025-03-11
DOI
https://doi.org/10.4038/ajim.v4i1.243
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

Eresha Jasinghe, S. Ghetheeswaran, S. Madhuwantha, R. Mathanky
1 links
Asian Journal of Internal Medicine
Metabolism and Genetic Disorders
article

Alkaptonuria: a rare genetic disorder diagnosed in an elderly female

Eresha Jasinghe, S. Ghetheeswaran, S. Madhuwantha, R. Mathanky
article en

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.

Asian Journal of Internal MedicineVol. 4(1)
Openalex Percentile: Top 94%
Metabolism and Genetic Disorders
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Alkaptonuria: a rare genetic disorder diagnosed in an elderly female — Eresha Jasinghe, S. Ghetheeswaran, et al. · Asian Journal of Internal Medicine (2025) | TGRS Research Map | TGRS