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Article

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.

BMC medical genomics - 10 Apr 2026

León-Sanabria María Camila, Zarante-Bahamón Ana María

Abstract excerpt

BACKGROUND: 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 two unrelated Colombian female patients with...

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Identifiers

PMID: 41963999
DOI: 10.1186/s12920-026-02344-3
PMCID: PMC13181865

Genes

HGD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.PMID 41963999Read ↗

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