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Article

A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2022

Tao Lvyan, Deng Chengjun, Ma Mingbiao, Zhang Yu, Duan Jintao, Li Ying, Fang Li, Zhou Yuantao, He Xiaoli, Wang Yan, Wang Mingying, Li Li

Abstract excerpt

BACKGROUND: Alkaptonuria (AKU) is a rare tyrosine metabolism disorder caused by homogentisate 1,2-dioxygenase (HGD) mutations and homogentisic acid (HGA) accumulation. In this study, we investigated the genotype-phenotype relationship in AKU patients with a novel HGD gene mutation from a Chinese Hani family. METHODS: Routine clinical examination and laboratory evaluation were performed, urine alkalinization test...

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PMID: 35550814
DOI: 10.1016/j.cca.2022.04.998

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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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