Etiology, Epidemiology, Pathophysiology, Diagnosis, Differential Diagnosis, Treatment, Prognosis and Complications of Alkaptomuria

Alkaptonuria is a metabolic disorder that leads to harmful abnormal deposits in different tissues throughout the body because of disrupted tyrosine metabolism. This article explicits the disorder's etiology, epidemiology, pathophysiology, and clinical presentations, especially its ocular manifestations. It also addresses the role of the interprofessional team regarding evaluation and treatment of patiens along with this condition.

Authors

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-04-14
DOI
https://doi.org/10.5281/zenodo.19565478
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Etiology, Epidemiology, Pathophysiology, Diagnosis, Differential Diagnosis, Treatment, Prognosis and Complications of Alkaptomuria

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Zenodo (CERN European Organization for Nuclear Research)
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Etiology, Epidemiology, Pathophysiology, Diagnosis, Differential Diagnosis, Treatment, Prognosis and Complications of Alkaptomuria

Madhavi Latha C, Muralinath E., Manohar U., Rohitha K., Srinadh G., Sheethal U., Rajitha V., Guruprasad M.
article en

Abstract

Alkaptonuria is a metabolic disorder that leads to harmful abnormal deposits in different tissues throughout the body because of disrupted tyrosine metabolism. This article explicits the disorder's etiology, epidemiology, pathophysiology, and clinical presentations, especially its ocular manifestations. It also addresses the role of the interprofessional team regarding evaluation and treatment of patiens along with this condition.

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being
Openalex Percentile: Top 6%
Metabolism and Genetic Disorders
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