Creatine Deficiency

Creatine Deficiency and ASD

• Creatine Deficiency and ASD

It has been suggested that autistic symptoms, mental retardation and severe language disorders result from a deficient amount of creatine in the brain, and that epilepsy and neurological regression is a result of an accumulation of GAA. However, a study which measured urinary CR or GAA showed no difference betwee those with ASD and control groups. Urinary CR is sensitive to a person's diet.¹

Creatine Deficiency Syndrome(CDS) results from a metabolism error taht results in dysfunctional creatine synthesis or transport. This includes arginine:glycine amidinotransferase deficiency(AGAT), guanidinoacetate methyltransferase deficiency(GAMT), and CR transporter deficiency(CRTR). Individuals with CDS have no or extremely low levels of creatine in the central nervous system. Creatine may act as a central neuromodulator and as a co-transmitter on gamma aminobutyric acid postsynaptic receptors. Clinically, CDS presents similarly to autism. Patients with CDS often show developmental delay/regression, intellectual disability, epilepsy, and expressive/receptive language disturbance. ¹

• Treatment

Those with GAMT defeciency can not convert GAA to Creatine, and can be treated by supplementing their diet with ornithine and restricting arginine in the diet. These steps decreases the accumulation of GAA.

Genetics

Animal Models

Citations

1. Wang L et. al. Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?Autism Res. 2010 Jun 29. PMID 20589913