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Article

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.

Brain & development - 1 Oct 2014

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

Abstract excerpt

OBJECTIVE: Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder caused by glutaryl-CoA dehydrogenase deficiency due to GCDH gene mutations. In this study, the clinical presentation and molecular aspects of 23 Chinese patients (11 males and 12 females) were investigated. METHODS: All patients were diagnosed by elevated urinary glutaric acid and GCDH gene analysis. Protein-restricted diet supplemented...

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Source

Identifiers

PMID: 24332224
DOI: 10.1016/j.braindev.2013.11.006

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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