Abstract:

Cerebral creatine deficiency syndromes are inherited metabolic errors in creatine synthesis and transport，which are divided into creatine transporter deficiency，guanidinoacetate methyltransferase（GAMT） deficiency，and L-arginine-glycine amidinotransferase deficiency.Patients with cerebral creatine deficiency syndromes present a wide range of symptoms，including developmental delay，movement disorder，behavioral problems and early-onset epilepsy in childhood.The typical imaging feature of this disease is the deficiency of creatine peaks in brain proton magnetic resonance spectroscopy.The molecular genetic detection is important for the definitive diagnosis.Biallelic pathogenic variants in GAMT or GATM，as well as hemizygous pathogenic variants in males and heterozygous pathogenic variants in a few females in SLC6A8 can result in cerebral creatine deficiency syndrome.While all 3 types of disorders are currently treated with creatine supplementation，creatine transporter deficiency is also treated with arginine and glycine supplementation and GAMT deficiency is treated with ornithine supplementation and arginine-restricted diet.

Key words: Cerebral creatine deficiency syndrome, Developmental disabilities, Genetic testing, Drug theraphy