Article

Alkaptonuria in Two Colombian Patients: Identification of HGD Variants Including a Novel Finding

2025-11-05

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Alkaptonuria (AKU) is a rare autosomal recessive inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD), its deficiency results in homogentisic acid (HGA) accumulation, which oxidizes to form melanin-like pigments that deposit in connective tissues, leading to ochronosis and progressive multisystem complications. We describe tw...

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Literature Corpus work: 937127a2-6d81-59c2-ae85-644896eec60b
DOI: 10.21203/rs.3.rs-7503075/v1

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