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Pathway Description
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)
Homo sapiens
Disease Pathway
Created: 2022-11-03
Last Updated: 2023-10-25
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidinotransferase, which catalyzes the reaction between L-arginine and glycine, transferring an amidino group from L-arginine to glycine, producing L-ornithine and guanidinoacetate, a precursor of creatine. A defect in this enzyme causes a decrease in concentration of creatine and guanidinoacetate in plasma and urine. Symptoms include mental and motor retardation, seizures, and delayed or abnormal speech development.
References
Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) References
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Pubmed: 25865492
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