title: Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.
abstract: Biochemical and developmental results of treatment of a guanidinoacetate methyltransferase (GAMT) deficient patient with a mild clinical presentation and remarkable developmental improvement after treatment are presented. Treatment with creatine (Cr) supplementation resulted in partial normalization of cerebral (measured with magnetic resonance proton spectroscopy) and plasma levels of Cr and guanidinoacetate (GAA). Addition of high dose ornithine to the treatment led to further normalization of plasma GAA, while cerebral Cr and GAA did not improve further.
authors.affiliation: Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands. k.t.verbruggen@bkk.umcg.nl
authors.forename: Krijn T
authors.initials: KT
authors.lastname: Verbruggen
authors.forename: Paul E
authors.initials: PE
authors.lastname: Sijens
authors.forename: Andreas
authors.initials: A
authors.lastname: Schulze
authors.forename: Roelineke J
authors.initials: RJ
authors.lastname: Lunsing
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D001921:Brain / Q000378:metabolism; D002657:Child Development; D002675:Child, Preschool; D003401:Creatine / Q000097:blood / Q000627:therapeutic use*; D019587:Dietary Supplements; D005998:Glycine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D016896:Treatment Outcome
chemical_list: D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D003401:Creatine; D005998:Glycine