title: Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
abstract: The authors describe an Italian child with guanidinoacetate methyltransferase deficiency, neurologic regression, movement disorders, and epilepsy during the first year of life. Brain MRI showed pallidal and periaqueductal alterations. In vivo 1H-MRS showed brain creatine depletion. The assessment of guanidinoacetic acid concentration in biologic fluids confirmed the diagnosis. Clinical, biochemical, and neuroradiologic improvement followed creatine supplementation.
authors.affiliation: Dipartimento di Scienze Neurologiche e Psichiatriche dell'Età Evolutiva, Università La Sapienza, Rome, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: M C
authors.initials: MC
authors.lastname: Bianchi
authors.forename: M
authors.initials: M
authors.lastname: Tosetti
authors.forename: C
authors.initials: C
authors.lastname: Carducci
authors.forename: C A
authors.initials: CA
authors.lastname: Cerquiglini
authors.forename: G
authors.initials: G
authors.lastname: Cioni
authors.forename: I
authors.initials: I
authors.lastname: Antonozzi
mesh_terms: D001923:Brain Chemistry; D002675:Child, Preschool; D003401:Creatine / Q000008:administration & dosage*; D004827:Epilepsy / Q000178:diet therapy* / Q000378:metabolism; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008780:Methyltransferases / Q000172:deficiency*; D009069:Movement Disorders / Q000188:drug therapy* / Q000378:metabolism
chemical_list: D008780:Methyltransferases; D050937:Guanidinoacetate N-Methyltransferase; D003401:Creatine