Guanidinoacetate Methyltransferase Deficiency
Pathogenesis
- Guanidinoacetate Methyltransferase deficiency results in failure of production of amino acids – glycine, arginine, and methionine [failure of guanidinoacetate conversion to creatine], which leads to creatine shortage and energy shortage in energy-demanding organs (eg, the brain).
Clinical
- Neurological manifestations: Cognitive Delay, Seizures Neuropsychiatric manifestations (Autistic phenotype w/self-injurious behaviors), Extra-pyramidal abnormalities (tremors, tics).
Genetics
- GAMT gene mutation
- Autosomal recessive
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov