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Article

Genetic and biochemical study in a patient with glutaric acidemia type I.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jul 2004

Lin Wei-De, Wang Chung-Hsing, Lai Chien-Chen, Lee Cheng-Chung, Tsai Fuu-Jen

Abstract excerpt

Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric academia type I (GA-I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate nucleus and putamen. We report a case of GA-I in a 4-year-old boy. Analysis of blood acylcarnitines by tandem mass spectrometry (MS/MS) revealed a high concentration of...

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Identifiers

PMID: 15318278

Genes

GCDH

Variants

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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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