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Neurology 2002;59:1802-1804
© 2002 American Academy of Neurology
Brief Communications

Adult onset glutaric aciduria type I presenting with a leukoencephalopathy

O. Bähr, I. Mader, MD, J. Zschocke, PhD, J. Dichgans, MD and J.B. Schulz, MD

From the Departments of Neurology (O. Bähr and Drs. Dichgans and Schulz) and Neuroradiology (Dr. Mader) and Section of Experimental Radiology (Dr. Mader), University Hospital, Tübingen; and Institute of Human Genetics (Dr. Zschocke) and Division of Metabolic and Endocrine Diseases (Dr. Zschocke), Department of Paediatrics, Heidelberg University, Germany.

Address correspondence and reprint requests to Dr. Jörg B. Schulz, Department of Neurology, University of Tübingen, Medical School, Hoppe-Seyler-Strasse 3, D-72076 Tübingen, Germany; e-mail: joerg.b.schulz{at}uni-tuebingen.de

Glutaric aciduria type I usually presents with an acute metabolic crisis during infancy. The authors report a previously healthy 19-year-old woman who presented with recurrent headaches, oculomotor symptoms, and a severe leukoencephalopathy on MRI. The diagnosis was made by urinary organic acid analysis and confirmed by enzyme studies. Genetic analysis revealed compound heterozygosity with a deletion c.219delC in exon 3 and a novel missense mutation R132G in exon 5 of the glutaryl CoA dehydrogenase (GCDH) gene.




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Correspondence:

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Adult onset glutaric aciduria type I presenting with a leukoencephalopathy
S Kolker, et al.
Neurology Online, 22 Jan 2003 [Full text]
Reply to Letter to the Editor
J B Schulz, et al.
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