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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
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
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Pasquali M, Schwarz E, Jensen M, Yuzyuk T, DeBiase I, Randall H, Longo N
J Inherit Metab Dis 2014 Mar;37(2):231-6. Epub 2013 Nov 26 doi: 10.1007/s10545-013-9662-7. PMID: 24276113

Recent clinical studies

Diagnosis

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

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

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