EC Number   |
Application |
Reference |
|---|
    2.1.1.2 | 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 |
757529 |
| 2.1.1.2 | analysis |
nonradioactive method for measuring enzyme activity in lymphoblasts by using HPLC with UV detector |
660695 |
| 2.1.1.2 | medicine |
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 |
690096 |
| 2.1.1.2 | 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 |
687352 |
| 2.1.1.2 | 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 |
687944 |
| 2.1.1.2 | medicine |
guanidinoacetate methyltransferase deficient patients show intellectual disability, epilepsy and sigificant movement disorder |
689013 |
| 2.1.1.2 | 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 |
687899 |
