title: Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
abstract: This paper describes a full detailed high performance liquid chromatography/tandem mass spectrometry method for the identification and quantification of human urine alpha-aminoadipic semialdehyde, biomarker of pyridoxine-dependent epilepsy. The ionization mode of the electrospray interface was negative and the metabolite was detected in the multiple reaction monitoring mode. Intra-day and inter-day laboratory precision were 4.64% and 7.30%, respectively, total run time was 3.5min. The calibration curve was linear between 0.25 and 10nmol with a correlation coefficient of the calibration line (R(2)≥0.9984); the limit of quantification was 0.25nmol within the control group. This simple, fast, high reproducible and robust procedure facilitates a rapid diagnosis of patients with pyridoxine-dependent epilepsy and can also be used to confirm the elevated urinary alpha-aminoadipic semialdehyde excretion in patients with other metabolic diseases as molybdenum cofactor and isolated sulphite oxidase deficiencies.
authors: Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors: Isaac
authors: I
authors: Ferrer-López
authors: Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors: Pedro
authors: P
authors: Ruiz-Sala
authors: Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors: Begoña
authors: B
authors: Merinero
authors: Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
authors: Celia
authors: C
authors: Pérez-Cerdá
authors: Centro de Diagnóstico de Enfermedades Moleculares, CEDEM, Facultad de Ciencias, Módulo 10, Universidad Autónoma de Madrid, 28049 Madrid, Spain. Electronic address: mugarte@cbm.uam.es.
authors: Magdalena
authors: M
authors: Ugarte
mesh_terms: D015074:2-Aminoadipic Acid / Q000031:analogs & derivatives* / Q000652:urine; D000293:Adolescent; D002675:Child, Preschool; D002853:Chromatography, Liquid / Q000379:methods*; D004827:Epilepsy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016014:Linear Models; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D015074:2-Aminoadipic Acid; C000061:allysine
keywords: Alpha-aminoadipic semialdehyde; Antiquitin; Isolated sulphite oxidase deficiency; Molybdenum cofactor deficiency; Pyridoxine-dependent epilepsy