Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

2000 ◽  
Vol 71 (4) ◽  
pp. 633-638 ◽  
Author(s):  
Carla Carducci ◽  
Vincenzo Leuzzi ◽  
Claudia Carducci ◽  
Sabrina Prudente ◽  
Luana Mercuri ◽  
...  
Keyword(s):  
Guanidinoacetate Methyltransferase Deficiency

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

Neurology ◽  
2000 ◽  
Vol 55 (9) ◽  
pp. 1407-1410 ◽  
Author(s):  
V. Leuzzi ◽  
M. C. Bianchi ◽  
M. Tosetti ◽  
C. Carducci ◽  
A. Cerquiglini ◽  
...  
Keyword(s):  
Creatine Supplementation ◽  
Guanidinoacetate Methyltransferase Deficiency

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

Neurology ◽  
2006 ◽  
Vol 67 (4) ◽  
pp. 719-721 ◽  
Author(s):  
A. Schulze ◽  
G. F. Hoffmann ◽  
P. Bachert ◽  
S. Kirsch ◽  
G. S. Salomons ◽  
...  
Keyword(s):  
Guanidinoacetate Methyltransferase Deficiency

Guanidinoacetate methyltransferase deficiency: New clinical features

1997 ◽  
Vol 17 (2) ◽  
pp. 155-157 ◽  
Author(s):  
Vijeya Ganesan ◽  
Andrew Johnson ◽  
Alan Connelly ◽  
Susan Eckhardt ◽  
Robert A.H. Surtees
Keyword(s):  
Clinical Features ◽  
Guanidinoacetate Methyltransferase Deficiency

Cerebral Creatine Deficiency Disorders

2017 ◽  
Author(s):  
Peter W. Schutz ◽  
Sylvia Stockler
Keyword(s):  
Early Childhood ◽  
Intellectual Disability ◽  
Behavior Disorders ◽  
Inborn Errors ◽  
Creatine Deficiency ◽  
Creatine Transport ◽  
Guanidinoacetate Methyltransferase Deficiency ◽  
Low Levels ◽  
And Behavior ◽  
The Brain

Cerebral creatine deficiency disorders that result in very low levels of creatine in the brain, can cause in intellectual disability, seizures, expressive speech disorder and behavior disorders if not treated in early childhood. CCDDs comprise disorders of creatine synthesis (arginine:glycine [AGAT; MIM 602360]; guanidinoacetate methyltransferase deficiency [GAMT; MIM 601240]) and of creatine transport (SLC6A8 deficiency [SLC6A8; MIM 300036]). Inborn errors of creatine synthesis-but not, as yet, of transport-can be treated by creatine substitution and are thus treatable causes of intellectual disability.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in theGAMTGene

2014 ◽  
Vol 35 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Saadet Mercimek-Mahmutoglu ◽  
Joseph Ndika ◽  
Warsha Kanhai ◽  
Thierry Billette de Villemeur ◽  
David Cheillan ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Missense Variants ◽  
Guanidinoacetate Methyltransferase Deficiency

scholarly journals Prenatal Diagnosis of Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate Concentrations in Amniotic Fluid

2006 ◽  
Vol 52 (4) ◽  
pp. 775-777 ◽  
Author(s):  
David Cheillan ◽  
Gajja S Salomons ◽  
Cécile Acquaviva ◽  
Catherine Boisson ◽  
Philippe Roth ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Guanidinoacetate Methyltransferase Deficiency
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