Relevance to Autism

An analysis of the clinical, biochemical, and molecular findings in 27 patients with GAMT deficiency determined that 21 of these patients (78%) were autistic, hyperactive, and self-injurious (Mercimek-Mahmutoglu et al., 2006).

Molecular Function

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency (also known as cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]), an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.

External Links

References