GMAT deficiency syndrome
Evidence-based neurology checklist on gmat deficiency syndrome: Pathology This is caused by guanidinoacetate methyltransferase deficiency It is a cerebral creatine deficiency syndrome (CCDS) Other CCDs are AGAT and SLC6A8 Clinical features Treatment
Pathology
- This is caused by guanidinoacetate methyltransferase deficiency
- It is a cerebral creatine deficiency syndrome (CCDS)
- Other CCDs are AGAT and SLC6A8
Clinical features
Treatment
References
- Stockler-Ipsiroglu S, van Karnebeek C, Longo N, et al. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab 2014; 111:16-25.
- Viau KS, Ernst SL, Pasquali M, Botto LD, Hedlund G, Longo N. Evidence-based treatment of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab 2013; 110:255-262.
- Comeaux MS, Wang J, Wang G, et al. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab 2013; 109:260-268.
- Stockler-Ipsiroglu S, van Karnebeek CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol 2014; 34:350-356.
Related checklists
- BRAT1 epileptic encephalopathy
- CDKL5 epileptic encephalopathy
- DNM1 epileptic encephalopathy
- Early myoclonic encephalopathy (EME)
- FOXG1 encephalopathy
- GABA transaminase deficiency
- GLUT1 deficiency disease (G1D)
- GRIN2B epileptic encephalopathy
- Harel-Yoon syndrome (HYS)
- Hemiconvulsion–hemiplegia (HH) syndrome
- KCNT1 epileptic encephalopathy
- PACS2 related epileptic encephalopathy
- PCDH19 related epileptic encephalopathy
- STX1B epileptic encephalopathy
- STXBP1 epileptic encephalopathy
- SYNGAP1 epileptic encephalopathy
