Literature DB >> 11087795

Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).

V Leuzzi1, M C Bianchi, M Tosetti, C Carducci, C A Cerquiglini, G Cioni, I Antonozzi.   

Abstract

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.

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Year:  2000        PMID： 11087795     DOI： 10.1212/wnl.55.9.1407

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  23 in total

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Authors:  Lisa L Sandell; Xiao-Juan Guan; Robert Ingram; Shirley M Tilghman
Journal:  Proc Natl Acad Sci U S A       Date:  2003-04-01       Impact factor: 11.205

2.  Creatine supplementation to total parenteral nutrition improves creatine status and supports greater liver and kidney protein synthesis in neonatal piglets.

Authors:  O Chandani Dinesh; Robert F Bertolo; Janet A Brunton
Journal:  Pediatr Res       Date:  2017-09-27       Impact factor: 3.756

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Authors:  Alexandra I Zugno; Emilene B S Scherer; Patrícia F Schuck; Diogo L Oliveira; Suzana Wofchuk; Clovis M D Wannmacher; Moacir Wajner; Angela T S Wyse
Journal:  Metab Brain Dis       Date:  2006-04-27       Impact factor: 3.584

4.  Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

Authors:  C B Item; S Stöckler-Ipsiroglu; C Stromberger; A Mühl; M G Alessandrì; M C Bianchi; M Tosetti; F Fornai; G Cioni
Journal:  Am J Hum Genet       Date:  2001-09-10       Impact factor: 11.025

5.  Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Authors:  Vassili Valayannopoulos; Nathalie Boddaert; Allel Chabli; Valerie Barbier; Isabelle Desguerre; Anne Philippe; Alexandra Afenjar; Michel Mazzuca; David Cheillan; Arnold Munnich; Yves de Keyzer; Cornelis Jakobs; Gajja S Salomons; Pascale de Lonlay
Journal:  J Inherit Metab Dis       Date:  2011-06-10       Impact factor: 4.982

Review 6.  Creatine and the creatine transporter: a review.

Authors:  R J Snow; R M Murphy
Journal:  Mol Cell Biochem       Date:  2001-08       Impact factor: 3.396

7.  Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.

Authors:  Krijn T Verbruggen; Wilma A Knijff; Roelineke J Soorani-Lunsing; Paul E Sijens; Nanda M Verhoeven; Gajja S Salomons; Siena M Goorhuis-Brouwer; Francjan J van Spronsen
Journal:  Eur J Pediatr       Date:  2006-12-21       Impact factor: 3.183

Review 8.  In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.

Authors:  Erica B Sherry; Phil Lee; In-Young Choi
Journal:  Neurochem Res       Date:  2015-11-26       Impact factor: 3.996

9.  Guanidinoacetate decreases antioxidant defenses and total protein sulfhydryl content in striatum of rats.

Authors:  Alexandra I Zugno; Francieli M Stefanello; Emilene B S Scherer; Cristiane Mattos; Carolina D Pederzolli; Vanessa M Andrade; Clovis M D Wannmacher; Moacir Wajner; Carlos S Dutra-Filho; Angela T S Wyse
Journal:  Neurochem Res       Date:  2008-03-15       Impact factor: 3.996

Review 10.  Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.

Authors:  C Stromberger; O A Bodamer; S Stöckler-Ipsiroglu
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
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