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Article

Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.

European journal of medical genetics - 1 May 2021

Kisa Pelin Teke, Gunduz Mehmet, Dorum Sevil, Uzun Ozlem Unal, Cakar Nafiye Emel, Yildirim Gonca Kilic, Erdol Sahin, Hismi Burcu Ozturk, Tugsal Handan Yarkan, Ucar Ulku, Gorukmez Ozlem, Gulten Zumrut Arslan, Kucukcongar Aynur, Bulbul Selda, Sari Ismail, Arslan Nur

Abstract excerpt

Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic...

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Identifiers

PMID: 33746036
DOI: 10.1016/j.ejmg.2021.104197

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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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