title: Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry.
abstract: Succinylacetone (SA) is a specific marker for the inherited metabolic disease, hepatorenal tyrosinemia. We developed a stable-isotope dilution liquid chromatography tandem mass spectrometry for the determination of SA in dried blood spots (DBS) and liquid urine using a (13)C(4)-SA as internal standard. SA was extracted, converted to the butyl ester and derivatized with dansylhydrazine (Dns-H). Calibration curves in DBS and urine calibrators were linear up to 100 and 30 microM, respectively. At a signal-to-noise ratio of 3, the limits of detection in DBS and urine were 0.2 and 0.005 microM, respectively. Total run time was 5 min. Intra- and inter-assay precision expressed as coefficient of variation were better than 9.1% with more than 96% recovery. The method was applied retrospectively and prospectively for the diagnosis of hepatorenal tyrosinemia and for follow-up of patients under treatment.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Takhsussi Road, MBC-03, Riyadh 11211, Saudi Arabia.
authors.forename: Osama Y
authors.initials: OY
authors.lastname: Al-Dirbashi
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
authors.forename: Herman J Ten
authors.initials: HJ
authors.lastname: Brink
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
authors.forename: Najlaa
authors.initials: N
authors.lastname: Filimban
authors.forename: Lujane Y
authors.initials: LY
authors.lastname: Al-Ahaidib
authors.forename: Minnie
authors.initials: M
authors.lastname: Jacob
authors.forename: Moeen M
authors.initials: MM
authors.lastname: Al-Sayed
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Al-Hassnan
authors.forename: Eissa
authors.initials: E
authors.lastname: Faqeih
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D003619:Dansyl Compounds / Q000737:chemistry; D006537:Heptanoates / Q000097:blood* / Q000737:chemistry / Q000652:urine*; D006801:Humans; D006834:Hydrazines / Q000737:chemistry; D007231:Infant, Newborn; D013058:Mass Spectrometry / Q000379:methods; D015997:Neonatal Screening / Q000379:methods; D013048:Specimen Handling; D020176:Tyrosinemias / Q000175:diagnosis
chemical_list: D003619:Dansyl Compounds; D006537:Heptanoates; D006834:Hydrazines; C027913:dansyl hydrazine; C020804:succinylacetone