title: Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency.
abstract: A new automated method for the assay of guanidinoacetic acid (GAA) in dried blood spot (DBS) on filter paper is reported. The method, based on reversed-phase (RP)-HPLC, precolumn derivatisation with benzoin and fluorescence detection, has shown good precision and sensitivity and requires only minimal sample handling. The validity of the method was demonstrated by analysing the neonatal blood spot of a patient affected by guanidinoacetate methyltransferase (GAMT) deficiency. GAA concentration was found to be nearly 12-fold higher than the mean control value. We propose this method as an inexpensive and widely applicable tool for the diagnosis of GAMT deficiency.
authors.affiliation: Dipartimento di Medicina Sperimentale e Patologia, Università degli Studi di Roma La Sapienza, Rome, Italy. cardu-cla@yahoo.com
authors.forename: C
authors.initials: C
authors.lastname: Carducci
authors.forename: M
authors.initials: M
authors.lastname: Birarelli
authors.forename: P
authors.initials: P
authors.lastname: Santagata
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: C
authors.initials: C
authors.lastname: Carducci
authors.forename: I
authors.initials: I
authors.lastname: Antonozzi
mesh_terms: D001331:Automation; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D003955:Diagnostic Tests, Routine; D005998:Glycine / Q000031:analogs & derivatives* / Q000097:blood*; D050937:Guanidinoacetate N-Methyltransferase; D006801:Humans; D007231:Infant, Newborn; D008780:Methyltransferases / Q000172:deficiency*; D015997:Neonatal Screening / Q000379:methods; D012016:Reference Values; D015203:Reproducibility of Results; D013048:Specimen Handling
chemical_list: D008780:Methyltransferases; C494506:GAMT protein, human; D050937:Guanidinoacetate N-Methyltransferase; C004946:glycocyamine; D005998:Glycine