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Article

HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.

Journal of genetics and genomics = Yi chuan xue bao - 20 Aug 2021

Sun Yu, Wei Xiujuan, Fang Fang, Shen Yiping, Wei Haiyan, Li Jiuwei, Ye Xianglai, Zhan Yongkun, Ye Xiantao, Liu Xiaomin, Yang Wei, Li Yuhua, Geng Xiangju, Huang Xuelin, Ruan Yiyan, Qin Zailong, Yi Shang, Lyu Jianxin, Fang Hezhi, Yu Yongguo

Abstract excerpt

Mitochondrial diseases are caused by variants in both mitochondrial and nuclear genomes. A nuclear gene HPDL (4-hydroxyphenylpyruvate dioxygenase-like), which encodes an intermembrane mitochondrial protein, has been recently implicated in causing a neurodegenerative disease characterized by pediatric-onset spastic movement phenotypes. Here, we report six Chinese patients with bi-allelic HPDL pathogenic variants...

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Identifiers

PMID: 34334354
DOI: 10.1016/j.jgg.2021.01.009

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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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