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L-Arginine:glycine amidinotransferase catalyses the first, which is also the committed step in the formation of creatine. The second step of the process, producing the actual creatine molecule, occurs solely in the cytosol, where the second enzyme, S-adenosylmethionine:guanidinoacetate methyltransferase (GAMT), is found.
This enzyme deficiency results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM. Individuals with AGAT deficiency are intellectually disabled and have muscle weakness. The symptoms of AGAT deficiency are caused by the lack of creatine in specific tissues, most notably muscle and brain.
Creatine is produced by the enzyme guanidinoacetate methyltransferase (GAMT). After production in the liver and kidneys, creatine is transported to organs and tissues with high energy demands, most commonly the brain and skeletal muscles. In addition to endogenous production, creatine can be obtained from dietary sources or supplementation.
A 70 kg man contains around 120 g of creatine, with 40% being the unphosphorylated form and 60% as creatine phosphate. Of that amount, 1–2% is broken down and excreted each day as creatinine. Phosphocreatine is used intravenously in hospitals in some parts of the world for cardiovascular problems under the name Neoton, and also used by some ...
2628 67092 Ensembl ENSG00000171766 ENSMUSG00000027199 UniProt P50440 Q9D964 RefSeq (mRNA) NM_001482 NM_001321015 NM_025961 RefSeq (protein) NP_001307944 NP_001473 NP_080237 Location (UCSC) Chr 15: 45.36 – 45.4 Mb Chr 2: 122.42 – 122.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene ...
Creatine supplements are marketed in ethyl ester, gluconate, monohydrate, and nitrate forms. [40] Creatine supplementation for sporting performance enhancement is considered safe for short-term use but there is a lack of safety data for long term use, or for use in children and adolescents. [41] Some athletes choose to cycle on and off creatine ...
Creatine-alpha-ketoglutarate is a salt formed from alpha-ketoglutaric acid (AKG) and creatine. Creatine is a mass-produced fitness supplement that is supposed to increase the user's muscle mass, strength and power. Creatine requires a delivery system for cell uptake. [citation needed] An example is arginine alpha-ketoglutarate.
Creatine kinase (CK), also known as creatine phosphokinase (CPK) or phosphocreatine kinase, is an enzyme (EC 2.7.3.2) expressed by various tissues and cell types. CK catalyses the conversion of creatine and uses adenosine triphosphate (ATP) to create phosphocreatine (PCr) and adenosine diphosphate (ADP). This CK enzyme reaction is reversible ...