title: Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry.
abstract: This paper describes a stable isotope dilution method for quantification of 3-hydroxyglutaric acid (3-HGA) in body fluids. The method comprises a solid-phase extraction procedure, followed by gas chromatographic separation and negative chemical ionization mass spectrometric detection. This method is selective and sensitive, and enables measurement of 3-HGA concentrations in urine-, plasma-, and CSF- samples of controls. The control ranges for 3-HGA were: urine 0.88-4.5 mmol/mol creatinine (n=12); plasma 0.018-0.10 micro mol/l (n=10), CSF 0.022-0.067 micro mol/l (n=10). We applied this method to measure 3-HGA in body fluids of three patients with glutaric aciduria type I. We also quantified 3-HGA in amniotic fluid of controls (range 0.056-0.11 micro mol/l; n=12) and in two samples from fetuses affected with glutaric aciduria type I.
authors.affiliation: Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
authors.forename: D S M
authors.initials: DS
authors.lastname: Schor
authors.forename: N M
authors.initials: NM
authors.lastname: Verhoeven
authors.forename: E A
authors.initials: EA
authors.lastname: Struys
authors.forename: H J
authors.initials: HJ
authors.lastname: ten Brink
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000653:Amniotic Fluid / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods*; D005977:Glutarates / Q000032:analysis* / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine; D006801:Humans; D012680:Sensitivity and Specificity
chemical_list: C108959:3-hydroxyglutaric acid; D005977:Glutarates