title: Creatine Defects and Central Nervous System.
abstract: Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis. Finally, a treatment approach of the different Cr deficiency syndromes is described.
authors.affiliation: From the Pediatric Neurology Department, Sant Joan de Déu Hospital, Barcelona University, Barcelona, Spain. Electronic address: cfons@hsjdbcn.org.
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
authors.affiliation: From the Pediatric Neurology Department, Sant Joan de Déu Hospital, Barcelona University, Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campistol
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000378:metabolism; D002490:Central Nervous System / Q000378:metabolism*; D003401:Creatine / Q000172:deficiency*; D006801:Humans
chemical_list: D003401:Creatine