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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Stockler-Ipsiroglu S, et al. Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17. Mol Genet Metab. 2015. PMID: 26490222 Free article.
OBJECTIVE: We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. ...
OBJECTIVE: We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical cha …
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Battini R, Alessandrì MG, Casalini C, Casarano M, Tosetti M, Cioni G. Battini R, et al. Orphanet J Rare Dis. 2017 Feb 2;12(1):21. doi: 10.1186/s13023-017-0577-5. Orphanet J Rare Dis. 2017. PMID: 28148286 Free PMC article.
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural disor …
BACKGROUND: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synt …
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.
Ostojic SM. Ostojic SM. Nutr Neurosci. 2019 May;22(5):302-305. doi: 10.1080/1028415X.2017.1385176. Epub 2017 Oct 3. Nutr Neurosci. 2019. PMID: 28971744 Review.
Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficienc …
Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-ter …
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS. Ndika JD, et al. Mol Genet Metab. 2012 May;106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27. Mol Genet Metab. 2012. PMID: 22386973
BACKGROUND: Arginine:glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families. Here we describe the clinical outcome and response to creatine supplementation in a patient of the second family affected with AGAT deficiency-a 9-year …
BACKGROUND: Arginine:glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families. Here we describe t …
Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.
Kayacelebi AA, Langen J, Weigt-Usinger K, Chobanyan-Jürgens K, Mariotti F, Schneider JY, Rothmann S, Frölich JC, Atzler D, Choe CU, Schwedhelm E, Huneau JF, Lücke T, Tsikas D. Kayacelebi AA, et al. Amino Acids. 2015 Sep;47(9):1893-908. doi: 10.1007/s00726-015-2012-3. Epub 2015 Jun 2. Amino Acids. 2015. PMID: 26031828 Clinical Trial.
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G. Battini R, et al. J Pediatr. 2006 Jun;148(6):828-30. doi: 10.1016/j.jpeds.2006.01.043. J Pediatr. 2006. PMID: 16769397
Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. ...
Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized …
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Leuzzi V. Leuzzi V. J Child Neurol. 2002 Dec;17 Suppl 3:3S89-97; discussion 3S97. J Child Neurol. 2002. PMID: 12597058 Review.
Creatine metabolism disorders have so far been described at the level of two synthetic steps, guanidinoacetate N-methyltransferase and arginine:glycine amidinotransferase, and at the level of the creatine transporter 1. Guanidinoacetate N-methyltransferase and arginine: …
Creatine metabolism disorders have so far been described at the level of two synthetic steps, guanidinoacetate N-methyltransferase and argin …