Cerebral creatine deficiency syndrome – A treatable cause of developmental delay - A case series and review of literature

Abstract

The cerebral creatine deficiency syndromes are inborn errors of creatine metabolism, which include two creatine biosynthesis disorders: guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine: glycine amidino transferase (AGAT) deficiency, as well as creatine transporter deficiency (CTD, SLC6A8 deficiency). They may present with a combination of symptoms such as global developmental delay, cognitive impairment, language disorder, behavioral problems, seizures, hypotonia, myopathy, and movement disorder. A high index of suspicion is necessary to identify these disorders at the earliest, as they are potentially treatable. Herewith, we present five cases of cerebral creatine deficiency syndromes.