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

Year: 2026

Type: article

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.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.19565477

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

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: green

OpenAlex ID: W7154337496

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