Arginine: Glycine Amidinotransferase Deficiency
Pathogenesis (Amino Acid Disorder)
- Arginine:glycine amidinotransferase synthesizes creatine from glycine, arginine, and methionine, so energy can be stored and utilized. In arginine:glycine amidinotransferase deficiency, there is energy deficiency in key organs, especially the brain.
Clinical
- Onset: Childhood
- Neurological manifestations: Cerebral Cortical (Cognitive Delay), Seizures (w/fever), Neuropsychiatric (Autism Phenotype).
- Systemic manifestations: Failure to Thrive
Genetics
- GATM 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