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Guanidinoacetate N-methyltransferase

Guanidinoacetate N-Methyltransferase, GAMT, guanidinoacetate methyltransferase
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, AGE, fibrillin-1
Papers on Guanidinoacetate N-Methyltransferase
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
Salomons et al., Toronto, Canada. In Gene, Feb 2016
BACKGROUND: GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis causing developmental delays or intellectual disability in untreated patients as a result of irreversible brain damage occurring prior to diagnosis.
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
la Marca et al., Florence, Italy. In Mass Spectrom Rev, Jan 2016
Today the use of MS/MS for second-tier tests and confirmatory testing is promising especially in the early detection of new disorders such as some lysosomal storage disorders, ADA and PNP SCIDs, X-adrenoleucodistrophy (X-ALD), Wilson disease, guanidinoacetate methyltransferase deficiency (GAMT), and Duchenne muscular dystrophy.
Dietary creatine supplementation during pregnancy: a study on the effects of creatine supplementation on creatine homeostasis and renal excretory function in spiny mice.
Dickinson et al., Melbourne, Australia. In Amino Acids, Jan 2016
At post mortem, body composition was assessed by Dual-energy X-ray absorptiometry, or tissues were collected to assess creatine content and mRNA expression of the creatine synthesising enzymes arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT) and the creatine transporter (CrT1).
Creatine biosynthesis and transport in health and disease.
Vamecq et al., Lille, France. In Biochimie, Dec 2015
Primary creatine disorders are inherited as autosomal recessive (mutations affecting GATM [for glycine-amidinotransferase, mitochondrial]) and GAMT genes) or X-linked (SLC6A8 gene) traits.
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Mercimek-Mahmutoglu et al., Toronto, Canada. In Mol Genet Genomics, Dec 2015
Guanidinoacetate methyltransferase (GAMT) deficiency is a neurodegenerative disease.
Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism.
Iqbal, Multān, Pakistan. In Pak J Pharm Sci, Nov 2015
Guanidinoacetate N-Methyl transferase (GAMT) is an important enzyme in creatine endogenous biosynthetic pathway, with highest expression in liver and kidney.
Atorvastatin increases miR-124a expression: a mechanism of Gamt modulation in liver cells.
Chuturgoon et al., Durban, South Africa. In J Cell Biochem, Nov 2015
A significant decrease in GAMT expression (3.54-fold) was observed in atorvastatin treated cells following quantitative PCR analysis.
Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.
Tsikas et al., Hannover, Germany. In Amino Acids, Sep 2015
AGAT catalyzes the formation of guanidinoacetate (GAA) that is methylated to creatine by guanidinoacetate methyltransferase (GAMT) which also uses SAM.
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
Braissant et al., Lausanne, Switzerland. In Neurobiol Dis, Jul 2015
Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in the brain.
Maternal creatine homeostasis is altered during gestation in the spiny mouse: is this a metabolic adaptation to pregnancy?
Dickinson et al., Melbourne, Australia. In Bmc Pregnancy Childbirth, 2014
mRNA expression of the creatine synthesising enzymes arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT), and the creatine transporter (CrT1) were assessed by RT-qPCR.
Creatine and the Liver: Metabolism and Possible Interactions.
Soares et al., Rio Grande, Brazil. In Mini Rev Med Chem, 2014
The process of creatine synthesis occurs in two steps, catalyzed by L-arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase (GAMT), which take place mainly in kidney and liver, respectively.
Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
van Karnebeek et al., Vancouver, Canada. In Semin Neurol, 2014
Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8].
Proteomics of old world camelid (Camelus dromedarius): Better understanding the interplay between homeostasis and desert environment.
Jin et al., Al Jīzah, Egypt. In J Advanc Res, 2014
Interestingly, the guanidinoacetate methyltransferase in camel liver has a renovation effect on high energy phosphate with possible concomitant intercession of ion homeostasis.
Toward an Automatic Determination of Enzymatic Reaction Mechanisms and Their Activation Free Energies.
Tuñón et al., Burjassot, Spain. In J Chem Theory Comput, 2013
This combination of methodologies has been here applied to the study, by means of Quantum Mechanics/Molecular Mechanics simulations, of the reaction catalyzed by guanidinoacetate methyltransferase.
Defining the pathogenicity of creatine deficiency syndrome.
Rodríguez-Pombo et al., Madrid, Spain. In Hum Mutat, 2011
impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures
GAMT, a p53-inducible modulator of apoptosis, is critical for the adaptive response to nutrient stress.
Lee et al., United States. In Mol Cell, 2009
Data show that the p53-->GAMT pathway represents a new link between cellular stress responses and processes of creatine synthesis and FAO, demonstrating a further role of p53 in cellular metabolism.
Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids.
Wevers et al., Nijmegen, Netherlands. In Nmr Biomed, 2009
Body fluids from 10 GAMT deficient patients were analysed using (1)H NMR spectroscopy.
Developmental changes in the expression of creatine synthesizing enzymes and creatine transporter in a precocial rodent, the spiny mouse.
Snow et al., Australia. In Bmc Dev Biol, 2008
In the fetal brain, mRNA expression of GAMT was relatively low until 34 days gestation (term is 38-39 days). In the fetal kidney and liver, GAMT mRNA and protein expression were also relatively low until 34-37 days gestation.
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
Frahm et al., Göttingen, Germany. In Lancet, 1996
METHODS: We studied and treated an infant with extrapyramidal signs who was shown--by assay for urinary creatinine and by analysis of brain metabolites with use of nuclear magnetic resonance spectra--to have depletion of body and brain creatine, due to inborn deficiency of guanidinoacetate methyltransferase (GAMT).
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