Guanidinoacetate Methyltransferase Deficiency

Common Name(s)

Guanidinoacetate Methyltransferase Deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Guanidinoacetate Methyltransferase Deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Guanidinoacetate Methyltransferase Deficiency" returned 6 free, full-text research articles on human participants. First 3 results:

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
 

Author(s): Sylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, G Christoph Korenke, Saadet Mercimek-Mahmutoglu, Iris Marquart, Bruce Barshop, Christiane Grolik, Andrea Schlune, Brad Angle, Helena Caldeira Araújo, Turgay Coskun, Luisa Diogo, Michael Geraghty, Goknur Haliloglu, Vassiliki Konstantopoulou, Vincenzo Leuzzi, Alina Levtova, Jennifer Mackenzie, Bruno Maranda, Aizeddin A Mhanni, Grant Mitchell, Andrew Morris, Theresa Newlove, Deborah Renaud, Fernando Scaglia, Vassili Valayannopoulos, Francjan J van Spronsen, Krijn T Verbruggen, Nataliya Yuskiv, William Nyhan, Andreas Schulze

Journal: Mol. Genet. Metab.. 2014 Jan;111(1):16-25.

 

We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with ...

Last Updated: 13 Jan 2014

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Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
 

Author(s): David Cheillan, Gajja S Salomons, Cécile Acquaviva, Catherine Boisson, Philippe Roth, Marie-Pierre Cordier, Laurence François, Cornelis Jakobs, Christine Vianey-Saban

Journal: Clin. Chem.. 2006 Apr;52(4):775-7.

 

Last Updated: 5 Apr 2006

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Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
 

Author(s): Andreas Schmidt, Bart Marescau, Ernest A Boehm, W Klaas Jan Renema, Ruben Peco, Anib Das, Robert Steinfeld, Sharon Chan, Julie Wallis, Michail Davidoff, Kurt Ullrich, Ralph Waldschütz, Arend Heerschap, Peter P De Deyn, Stefan Neubauer, Dirk Isbrandt

Journal: Hum. Mol. Genet.. 2004 May;13(9):905-21.

 

We generated a knockout mouse model for guanidinoacetate N-methyltransferase (GAMT) deficiency (MIM 601240), the first discovered human creatine deficiency syndrome, by gene targeting in embryonic stem cells. Disruption of the open reading frame of the murine GAMT gene in the first ...

Last Updated: 8 Apr 2004

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Reviews from the PubMed Database

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The terms "Guanidinoacetate Methyltransferase Deficiency" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.