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Neurology. 2005 Jun 28;64(12):2142-4.

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

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Department of Neurology, University of Heidelberg, Germany.


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.

[Indexed for MEDLINE]

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