GMAT deficiency syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
GMAT deficiency syndrome. This is caused by guanidinoacetate methyltransferase deficiency. Fully referenced neurology checklist.
Pathology
- This is caused by guanidinoacetate methyltransferase deficiency
- It is a cerebral creatine deficiency syndrome (CCDS)
- Other CCDs are AGAT and SLC6A8
Clinical features
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Treatment
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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.
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