title: Capillary electrophoresis for diagnosis of metabolic disease.
abstract: Capillary electrophoresis (CE) equipped with a diode-array detector have been used to determine diagnostic metabolites occurring in urine of patients with various diseases. The urine samples were injected directly onto the CE instrument without any pretreatment. Identification of abnormal metabolites was based on relative migration times and characteristic diode-array spectra. The CE-method readily diagnosed alkaptonuria, neuroblastoma and liver failure due to galactosemia. The simple and automated CE method appears to be suitable for implementation as a screening test in analytical systems aimed at diagnosis of metabolic disorders.
authors.affiliation: Institute of Clinical Biochemistry, Rikshospitalet, Oslo, Norway.
authors.forename: K B
authors.initials: KB
authors.lastname: Presto Elgstoen
authors.forename: E
authors.initials: E
authors.lastname: Jellum
mesh_terms: D000474:Alkaptonuria / Q000175:diagnosis / Q000652:urine; D019075:Electrophoresis, Capillary / Q000379:methods*; D005693:Galactosemias / Q000175:diagnosis / Q000652:urine; D006713:Homogentisic Acid / Q000652:urine; D006719:Homovanillic Acid / Q000652:urine; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000652:urine; D009447:Neuroblastoma / Q000175:diagnosis / Q000652:urine; D010666:Phenylpropionates / Q000652:urine; D014642:Vanilmandelic Acid / Q000652:urine
chemical_list: D010666:Phenylpropionates; C001418:4-hydroxyphenyllactic acid; D014642:Vanilmandelic Acid; D006713:Homogentisic Acid; D006719:Homovanillic Acid