title: Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.
abstract: Quantitative analysis of the following peroxisomal metabolites is reported: very long-chain fatty acids (VLCFA), pipecolic acid, bile acid intermediates, phytanic and pristanic acid, in plasma, urine, cerebrospinal fluid (CSF), blood spots collected at neonatal screening and amniotic fluid. An overview is given of the concentrations of these metabolites in body fluids from control subjects and all patients investigated so far in this laboratory. The method of choice is gas chromatography -- mass spectrometry (GC-MS) with electron capture detection, combined with the use of stable-isotope-labelled internal standards.
authors.affiliation: Department of Pediatrics, Free University Hospital Amsterdam, The Netherlands.
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: W
authors.initials: W
authors.lastname: Kulik
authors.forename: C M
authors.initials: CM
authors.lastname: van den Heuvel
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D001647:Bile Acids and Salts / Q000032:analysis; D005227:Fatty Acids / Q000032:analysis; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D018901:Peroxisomal Disorders / Q000097:blood / Q000175:diagnosis*; D010831:Phytanic Acid / Q000032:analysis; D010875:Pipecolic Acids / Q000032:analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011865:Radioisotope Dilution Technique; D012016:Reference Values
chemical_list: D001647:Bile Acids and Salts; D005227:Fatty Acids; D010875:Pipecolic Acids; D010831:Phytanic Acid; C002844:pristanic acid; C031345:pipecolic acid