title: [Clinical application of mass spectrometry in the pediatric field: current topics].
abstract: Mass spectrometry, including tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), is becoming prominent in the diagnosis of metabolic disorders in the pediatric field. It enables biochemical diagnosis of metabolic disorders from the metabolic profiles obtained by MS/MS and/or GC/MS. In neonatal mass screening for inherited metabolic disease (IMD) using MS/MS, amino acids and acylcarnitines on dried blood spots are analyzed. The target diseases include amino acidemia, urea cycle disorder, organic acidemia, and fatty acid oxidation disorder. In the MS/MS screening, organic acid analysis using GC/MS is required for differential and/or definite diagnosis of the IMDs. GC/MS data processing, however, is difficult, and metabolic diagnosis often requires the necessary skills and expertize. We developed an automated system of GC/MS data processing and autodiagnosis, and the biochemical diagnosis using GC/MS became markedly easier and user-friendly. Mass spectrometric techniques will expand from research laboratories to clinical laboratories in the near future.
authors.affiliation: Department of Pediatrics, Shimane University School of Medicine, Izumo 693-8501, Japan. seijiyam@shimane-med.ac.jp
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
mesh_terms: D002648:Child; D002849:Chromatography, Gas / Q000379:methods; D006801:Humans; D008403:Mass Screening; D013058:Mass Spectrometry / Q000379:methods; D008659:Metabolic Diseases / Q000175:diagnosis; D008970:Molecular Weight; D012680:Sensitivity and Specificity