Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

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

Research output: Contribution to journalArticlepeer-review

64 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2142-2144
Number of pages3
JournalNeurology
Volume64
Issue number12
DOIs
StatePublished - Jun 28 2005

ASJC Scopus subject areas

  • Clinical Neurology

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