title: 1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.
abstract: MR spectroscopy results in a mild case of guanidinoacetate methyltransferase (GAMT) deficiency are presented. The approach differs from previous MRS studies in the acquisition of a chemical shift imaging spectral map showing gray and white matter with the corresponding spectra in one overview. MR spectroscopy revealed guanidinoacetate (GAA) in the absence of creatine. New is that GAA signals are more prominent in gray matter than in white. In the prevailing view, that enzyme deficiency is localized in liver and pancreas and that all GAA is transported into the brain from the blood and the cerebrospinal fluid, this would be compatible with a more limited uptake and/or better clearance of GAA from the white matter compared to the grey matter.
authors.affiliation: Department of Radiology, University Medical Center Groningen, Groningen, The Netherlands. p.e.sijens@rad.umcg.nl
authors.forename: P E
authors.initials: PE
authors.lastname: Sijens
authors.forename: K T
authors.initials: KT
authors.lastname: Verbruggen
authors.forename: L C
authors.initials: LC
authors.lastname: Meiners
authors.forename: R J
authors.initials: RJ
authors.lastname: Soorani-Lunsing
authors.forename: J P
authors.initials: JP
authors.lastname: Rake
authors.forename: M
authors.initials: M
authors.lastname: Oudkerk
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001923:Brain Chemistry; D002675:Child, Preschool; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis / Q000097:blood / Q000172:deficiency*; D018698:Glutamic Acid / Q000032:analysis; D005998:Glycine / Q000031:analogs & derivatives* / Q000032:analysis / Q000097:blood / Q000134:cerebrospinal fluid; D050937:Guanidinoacetate N-Methyltransferase / Q000172:deficiency*; D006801:Humans; D006859:Hydrogen; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008297:Male; D013577:Syndrome
chemical_list: D001224:Aspartic Acid; D018698:Glutamic Acid; D006859:Hydrogen; C000179:N-acetylaspartate; D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D003401:Creatine; D002794:Choline; D005998:Glycine