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 HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Østergaard, E.
Right arrow Articles by Horn, N.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Østergaard, E.
Right arrow Articles by Horn, N.
NEUROLOGY 2005;65:931-933
© 2005 American Academy of Neurology
Brief Communications

Impaired energy metabolism and abnormal muscle histology in mut– methylmalonic aciduria

E. Østergaard, MD, PhD, F. Wibrand, PhD, M. C. Ørngreen, BS, J. Vissing, MD, PhD and N. Horn, PhD

From the John F. Kennedy Institute, (Drs. Østergaard, Wibrand, and Horn), Glostrup, Denmark; and the Department of Neurology and the Copenhagen Muscle Research Center (Drs. Ørngreen and Vissing), National University Hospital, Rigshospitalet, Copenhagen, Denmark.

Address correspondence and reprint requests to Dr. Elsebet Østergaard, John F. Kennedy Institute, Gl. Landevej 7, 2600 Glostrup, Denmark; e-mail: els{at}kennedy.dk

The authors report a 27-year-old man with B12-responsive muf- methylmalonic aciduria associated with pure muscle symptoms. Two mutations were found in the methylmalonyl-CoA mutase gene. An exercise test showed a reduced maximal workload and reduced oxygen uptake, and a muscle biopsy showed subsarcolemmal accumulation of mitochondria and normal respiratory chain enzyme activities. These findings may be caused by inhibition of mitochondrial energy metabolism by methylmalonate or its metabolites.

Disclosure: The authors report no conflicts of interest.

Received August 26, 2004. Accepted in final form June 7, 2005.




This article has been cited by other articles:


Home page
 J. Biol. Chem.Home page
K. Kimura, N. Tanaka, N. Nakamura, S. Takano, and S. Ohkuma
Knockdown of Mitochondrial Heat Shock Protein 70 Promotes Progeria-like Phenotypes in Caenorhabditis elegans
J. Biol. Chem., February 23, 2007; 282(8): 5910 - 5918.
[Abstract] [Full Text] [PDF]


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