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
Right arrow Citation Map
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 Leuzzi, V.
Right arrow Articles by Antonozzi, I.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Leuzzi, V.
Right arrow Articles by Antonozzi, I.
Neurology 2000;55:1407-1410
© 2000 American Academy of Neurology
Brief Communications

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

V. Leuzzi, MD, M. C. Bianchi, MD, M. Tosetti, PhD, C. Carducci, ChD, A. Cerquiglini, MD, G. Cioni, MD and I. Antonozzi, MD

From the Dipartimento di Scienze Neurologiche e Psichiatriche dell’Età Evolutiva (Drs. Leuzzi and Cerquiglini), Università "La Sapienza," Rome; the Dipartimento di Neuroradiologia (Dr. Bianchi), Ospedale S. Chiara, Pisa; the Istituto Scientifico Stella Maris (Drs. Tosetti and Cioni), Pisa; and the Dipartimento di Medicina Sperimentale (Drs. Carducci and Antonozzi), Università "La Sapienza", Rome, Italy.

Address correspondence and reprint requests to Dr. V. Leuzzi, Istituto di Neuropsichiatria Infantile, Via dei Sabelli 108, 00185 Rome, Italy.

The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo 1H-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.




This article has been cited by other articles:


Home page
 Am. J. Neuroradiol.Home page
M.C. Bianchi, M. Tosetti, R. Battini, V. Leuzzi, M.G. Alessandri', C. Carducci, I. Antonozzi, and G. Cioni
Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1H- and 31P-MR Spectroscopy Study
AJNR Am. J. Neuroradiol., March 1, 2007; 28(3): 548 - 554.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
S. Mercimek-Mahmutoglu, S. Stoeckler-Ipsiroglu, A. Adami, R. Appleton, H. C. Araujo, M. Duran, R. Ensenauer, E. Fernandez-Alvarez, P. Garcia, C. Grolik, et al.
GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis
Neurology, August 8, 2006; 67(3): 480 - 484.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Regul. Integr. Comp. Physiol.Home page
M. A. Tarnopolsky, J. M. Bourgeois, R. Snow, S. Keys, B. D. Roy, J. M. Kwiecien, and J. Turnbull
Histological assessment of intermediate- and long-term creatine monohydrate supplementation in mice and rats
Am J Physiol Regulatory Integrative Comp Physiol, October 1, 2003; 285(4): R762 - R769.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
L. L. Sandell, X.-J. Guan, R. Ingram, and S. M. Tilghman
Gatm, a creatine synthesis enzyme, is imprinted in mouse placenta
PNAS, April 15, 2003; 100(8): 4622 - 4627.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
C. Carducci, M. Birarelli, V. Leuzzi, C. Carducci, R. Battini, G. Cioni, and I. Antonozzi
Guanidinoacetate and Creatine plus Creatinine Assessment in Physiologic Fluids: An Effective Diagnostic Tool for the Biochemical Diagnosis of Arginine:Glycine Amidinotransferase and Guanidinoacetate Methyltransferase Deficiencies
Clin. Chem., October 1, 2002; 48(10): 1772 - 1778.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
C. B. Item, C. Stromberger, A. Muhl, C. Edlinger, O. A. Bodamer, A. Schulze, R. Surtees, V. Leuzzi, G. S. Salomons, C. Jakobs, et al.
Denaturing Gradient Gel Electrophoresis for the Molecular Characterization of Six Patients with Guanidinoacetate Methyltransferase Deficiency
Clin. Chem., May 1, 2002; 48(5): 767 - 769.
[Full Text] [PDF]

Home page
 Am. J. Clin. Nutr.Home page
B. N Ames, I. Elson-Schwab, and E. A Silver
High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): relevance to genetic disease and polymorphisms
Am. J. Clinical Nutrition, April 1, 2002; 75(4): 616 - 658.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2000 by AAN Enterprises, Inc.