Guanidinoacetate N-methyltransferase

Definition:

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor.

References:

[1]. S Mercimek-Mahmutoglu, et al. A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene. Gene. 2016 Jan 1;575(1):127-31. [Content Brief]

[2]. Saadet Mercimek-Mahmutoglu, et al. Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. Hum Mutat. 2014 Apr;35(4):462-9. [Content Brief]

[3]. Caro-Lyne Desroches, et al. Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene. Mol Genet Genomics. 2015 Dec;290(6):2163-71. [Content Brief]

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