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Article

First report of HGD mutations in a Chinese with alkaptonuria.

Gene - 15 Apr 2013

Yang Yong-jia, Guo Ji-hong, Chen Wei-jian, Zhao Rui, Tang Jin-song, Meng Xiao-hua, Zhao Liu, Tu Ming, He Xin-yu, Wu Ling-qian, Zhu Yi-min

Abstract excerpt

Alkaptonuria (AKU) is one of the first prototypic inborn errors in metabolism and the first human disease found to be transmitted via Mendelian autosomal recessive inheritance. It is caused by HGD mutations, which leads to a deficiency in homogentisate 1,2-dioxygenase (HGD) activity. To date, sev...

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Identifiers

PMID: 23353776
DOI: 10.1016/j.gene.2013.01.020

Genes

HGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23353776-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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