Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)


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.

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References

  1. OMIM: Entry 612718
  2. Metagene: mp=L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY
  3. Battini R, Alessandri MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G: Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr. 2006 Jun;148(6):828-30. Pubmed
  4. Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet. 2001 Nov;69(5):1127-33. Epub 2001 Sep 10. Pubmed
  5. Schulze A: Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Pubmed