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Article

Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort.

Brain : a journal of neurology - 1 Apr 2005

Funk Christopher B R, Prasad Asuri N, Frosk Patrick, Sauer Sven, Kölker Stefan, Greenberg Cheryl R, Del Bigio Marc R

Abstract excerpt

Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase (GCDH) activity. GA-1 is often associated with an acute encephalopathy between 6 and 18 months of age that causes striatal damage resulting in a severe dystonic movement disorder. Ten autopsy cases have been previously described. Our goal is to understand the disorder better so that...

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Source

Identifiers

PMID: 15689364
DOI: 10.1093/brain/awh401

Genes

GCDH

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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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