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Article

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency.

Neurology - 28 Jun 2005

Külkens S, Harting I, Sauer S, Zschocke J, Hoffmann G F, Gruber S, Bodamer O A, Kölker S

Abstract excerpt

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood.

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Source

Identifiers

PMID: 15985591
DOI: 10.1212/01.WNL.0000167428.12417.B2

Genes

GCDH

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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