Creatine Deficiency Syndromes

Additional names: Cerebral Creatine Deficiency Syndromes (CCDS) includes: Guanidinoaceteate Methyltransferase Deficiency (GAMT Deficiency), L-Arginine:Glycine Amidinotransferase Deficiency (AGAT Deficiency), and SLC6A8-Related Creatine Transporter Deficiency (SLC6A8 Deficiency)

Symptoms: General: mental retardation, seizures, speech delay. Additional possible symptoms: GAMT – behavioral disorder – including autistic behaviors; movement disorders SLC6A8 – growth retardation; (males) mild to severe mental retardation; (females) learning and behavior problems

Cause: GAMT & AGAT – autosomal recessive; SLC6A8 – X-linked

Links: https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency
https://rarediseases.info.nih.gov/diseases/10323/l-arginineglycine-amidinotransferase-deficiency