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Article

Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.

Human mutation - 1 Nov 2000

Tang N L, Hui J, Law L K, Lam Y Y, Chan K Y, Yeung W L, Chan A Y, Cheung K L, Fok T F

Abstract excerpt

Glutaric acidemia type I is caused by mutations of the glutaryl-CoA dehydrogenase (GCDH) gene resulting in loss of GCDH enzyme activity. Patients present with progressive dystonia and lesions in basal ganglia. Dietary treatment, when instituted from the early neonatal period, markedly reduces dys...

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Source

Identifiers

PMID: 11058907
DOI: 10.1002/1098-1004(200011)16:5<446::AID-HUMU14>3.0.CO;2-Y

Genes

GCDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11058907-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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