ABSTRACT
Impaired speech and cognitive development, hypotonia, dystonia, seizures, autistic behavior, depletion of creatine in the central nervous system, increased blood and urine guanidinoacetate (in guanidinoacetatetransferase [GAMT] deficiency), low blood and urine creatine (in arginine: glycine amidinotransferase [AGAT] and GAMT deficiencies),and increased urine creatine/creatinine excretion (in creatine transporter [CRTR] deficiency).
