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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
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
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Stockler S, Schutz PW, Salomons GS
Subcell Biochem 2007;46:149-66. doi: 10.1007/978-1-4020-6486-9_8. PMID: 18652076

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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