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Article

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

Brain & development - 1 Jan 2016

Liu Yupeng, Li Xiyuan, Wang Qiao, Ding Yuan, Song Jinqing, Yang Yanling

Abstract excerpt

OBJECTIVE: Methylmalonic aciduria is the most common organic aciduria in mainland China. Succinate-CoA ligase deficiency causes encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Patients usually present with severe encephalomyopathy, infantile lactic acidosis, which can be fatal, and mild methylmalonic aciduria. PATIENTS AND METHODS: Three Chinese patients (two boys and one girl)...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26028457
DOI: 10.1016/j.braindev.2015.05.002

Genes

SUCLG1

Variants

Provenance

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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Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.PMID 26028457Read ↗

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