Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Külkens, S.
Right arrow Articles by Kölker, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Külkens, S.
Right arrow Articles by Kölker, S.
Related Collections
Right arrow Metabolic disease (inherited)
Right arrow Leukodystrophies
Right arrow All Epilepsy/Seizures
NEUROLOGY 2005;64:2142-2144
© 2005 American Academy of Neurology
Brief Communications

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

S. Külkens, MD*, I. Harting, MD*, S. Sauer, J. Zschocke, MD, PhD, G. F. Hoffmann, MD, S. Gruber, PhD, O. A. Bodamer, MD and S. Kölker, MD

From the Departments of Neurology (Dr. Külkens), Neuroradiology (Dr. Harting), and General Pediatrics, Division of Inborn Metabolic Diseases (S. Sauer, and Drs. Hoffmann and Kölker), and Institute of Human Genetics (Dr. Zschocke), University of Heidelberg, Germany; and Department of General Pediatrics (Drs. Gruber and Bodamer), University Children’s Hospital Vienna, Austria.

Address correspondence and reprint requests to Dr. Stefan Kölker, University Children’s Hospital, Department of General Pediatrics, Division of Inborn Metabolic Diseases, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany; e-mail: Stefan_Koelker{at}med.uni-heidelberg.de

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.

*Both authors contributed equally to this study.

Supported by the German Federal Ministry of Education and Science (BMBF, #01GM0305, project #8) and the German Research Council (DFG, #KO 2010/2-1) to S.K.

Received January 4, 2004. Accepted in final form March 25, 2005.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2005 by AAN Enterprises, Inc.