2.1.1.2: guanidinoacetate N-methyltransferase
This is an abbreviated version!
For detailed information about guanidinoacetate N-methyltransferase, go to the full flat file.
Reaction
Synonyms
GA methylpherase, GAA methyltransferase, GAMT, guanidinoacetate methyltransferase, guanidinoacetate N-methyltransferase, guanidinoacetate transmethylase, guanidoacetate methyltransferase, methionine-guanidinoacetic transmethylase, MIM 601240, N-guanidinoacetate methyltransferase, S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase
ECTree
Advanced search results
Application
Application on EC 2.1.1.2 - guanidinoacetate N-methyltransferase
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
analysis
medicine
-
nonradioactive method for measuring enzyme activity in lymphoblasts by using HPLC with UV detector
analysis
development of a fast, less invasive, and valid method to measure GAMT activity in lymphocytes using LC-MS/MS. GAMT activity decreases when the venous blood sample is older. Blood isolated after 48 h is not reliable to use for lymphocyte analysis for GAMT enzymatic analysis
-
GAMT deficiency in mouse is associated with increased neonatal mortality, muscular hypotonia, decreased male fertility and a non-leptin-mediated life-long reduction in body weight due to reduced body fat mass
medicine
-
GAMT is a key enzyme in the biosynthesis of creatine, deficiency leads to severe clinical symptoms, including mental retardation, muscle hypotonia, extrapyramidal movement abnormalities and epileptic seizures
medicine
-
guanidinoacetate methyltransferase deficiency is a rare autosomal recessive inborn error of creatine synthesis leading to accumulation of guanidinoacetate and lack of creatine in all tissues, particularly in the brain and muscle
medicine
-
guanidinoacetate methyltransferase deficient patients show intellectual disability, epilepsy and sigificant movement disorder
medicine
-
since creatine plays an important role in the buffering and transfer of high-energy phosphate bonds in the heart, it is hypothesized that lack of creatine would be detrimental for resting cardiac performance during ageing