title: A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
abstract: Cerebral creatine deficiency syndromes (CCDS) are caused by genetic defects in L-arginine:glycine amidinotransferase, guanidinoacetate methyltransferase or creatine transporter 1. CCDS are characterized by abnormal concentrations of urinary creatine (CR), guanidinoacetic acid (GA), or creatinine (CN). In this study, we describe a simple HPLC method to determine the concentrations of CR, GA, and CN using a weak-acid ion chromatography column with a UV detector without any derivatization. CR, GA, and CN were separated clearly with the retention times (mean ± SD, n = 3) of 5.54 ± 0.0035 min for CR, 6.41 ± 0.0079 min for GA, and 13.53 ± 0.046 min for CN. This new method should provide a simple screening test for the diagnosis of CCDS.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan.
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Hiroko
authors.initials: H
authors.lastname: Shimbo
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
mesh_terms: D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000652:urine*; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D003401:Creatine / Q000172:deficiency / Q000302:isolation & purification / Q000652:urine*; D003404:Creatinine / Q000302:isolation & purification / Q000652:urine*; D005998:Glycine / Q000031:analogs & derivatives* / Q000302:isolation & purification / Q000652:urine; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000652:urine*; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000172:deficiency / Q000652:urine; D014166:Transferases / Q000172:deficiency
chemical_list: D050480:Plasma Membrane Neurotransmitter Transport Proteins; D003404:Creatinine; D014166:Transferases; C004946:glycocyamine; D003401:Creatine; D005998:Glycine