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Guanidinoacetate methyltransferase (GAMT) deficiency

MedGen UID:
412592
•Concept ID:
C2748618
•
Finding

Professional guidelines

PubMed

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rose AM, Comeau AM, Tanksley S, Powell CM, Kemper AR
Pediatrics 2023 Aug 1;152(2) doi: 10.1542/peds.2023-062100. PMID: 37465909Free PMC Article
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Hart K, Rohrwasser A, Wallis H, Golsan H, Shao J, Anderson T, Wang X, Szabo-Fresnais N, Morrissey M, Kay DM, Wojcik M, Galvin-Parton PA, Longo N, Caggana M, Pasquali M
Mol Genet Metab 2021 Sep-Oct;134(1-2):60-64. Epub 2021 Jul 29 doi: 10.1016/j.ymgme.2021.07.012. PMID: 34389248
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G
Mass Spectrom Rev 2016 Jan-Feb;35(1):71-84. Epub 2015 May 7 doi: 10.1002/mas.21463. PMID: 25952022

Recent clinical studies

Etiology

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Yıldız Y, Ardıçlı D, Göçmen R, Yalnızoğlu D, Topçu M, Coşkun T, Tokatlı A, Haliloğlu G
Eur J Paediatr Neurol 2024 Mar;49:66-72. Epub 2024 Feb 15 doi: 10.1016/j.ejpn.2024.02.006. PMID: 38394710

Diagnosis

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Yıldız Y, Ardıçlı D, Göçmen R, Yalnızoğlu D, Topçu M, Coşkun T, Tokatlı A, Haliloğlu G
Eur J Paediatr Neurol 2024 Mar;49:66-72. Epub 2024 Feb 15 doi: 10.1016/j.ejpn.2024.02.006. PMID: 38394710
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
Ayanoğlu M, Korgali E, Sezer T, Aydin HI, Sönmez FM
Brain Dev 2020 May;42(5):418-420. Epub 2020 Mar 12 doi: 10.1016/j.braindev.2020.02.001. PMID: 32173091

Therapy

Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
Ayanoğlu M, Korgali E, Sezer T, Aydin HI, Sönmez FM
Brain Dev 2020 May;42(5):418-420. Epub 2020 Mar 12 doi: 10.1016/j.braindev.2020.02.001. PMID: 32173091

Prognosis

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Yıldız Y, Ardıçlı D, Göçmen R, Yalnızoğlu D, Topçu M, Coşkun T, Tokatlı A, Haliloğlu G
Eur J Paediatr Neurol 2024 Mar;49:66-72. Epub 2024 Feb 15 doi: 10.1016/j.ejpn.2024.02.006. PMID: 38394710
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
Ayanoğlu M, Korgali E, Sezer T, Aydin HI, Sönmez FM
Brain Dev 2020 May;42(5):418-420. Epub 2020 Mar 12 doi: 10.1016/j.braindev.2020.02.001. PMID: 32173091

Clinical prediction guides

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.
Yıldız Y, Ardıçlı D, Göçmen R, Yalnızoğlu D, Topçu M, Coşkun T, Tokatlı A, Haliloğlu G
Eur J Paediatr Neurol 2024 Mar;49:66-72. Epub 2024 Feb 15 doi: 10.1016/j.ejpn.2024.02.006. PMID: 38394710

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