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Article

A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria.

Scientific reports - 19 Nov 2021

Bernini Andrea, Petricci Elena, Atrei Andrea, Baratto Maria Camilla, Manetti Fabrizio, Santucci Annalisa

Abstract excerpt

Alkaptonuria (AKU), a rare genetic disorder, is characterized by the accumulation of homogentisic acid (HGA) in organs due to a deficiency in functional levels of the enzyme homogentisate 1,2-dioxygenase (HGD), required for the breakdown of HGA, because of mutations in the HGD gene. Over time, HGA accumulation causes the formation of the ochronotic pigment, a dark deposit that leads to tissue degeneration and...

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Identifiers

PMID: 34799606
DOI: 10.1038/s41598-021-01670-z
PMCID: PMC8605014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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