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Article

Presentation of 14 alkaptonuria patients from Turkey.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Feb 2020

Akbaba Alper Ilker, Ozgül Rıza Köksal, Dursun Ali

Abstract excerpt

Background Alkaptonuria (OMIM: 203500) is an inborn error of metabolism due to homogentisate 1,2-dioxygenase homogentisic acid 1,2 dioxygenase (HGD) enzyme deficiency. Due to the enzyme deficiency, homogentisic acid cannot be converted to maleylacetoacetate and it accumulates in body fluids. Increased homogentisic acid is converted to benzoquinones, the resulting benzoquinones are converted to melanin-like...

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Identifiers

PMID: 31927521
DOI: 10.1515/jpem-2019-0163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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