title: Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.
abstract: BACKGROUND
  Hepatorenal tyrosinemia (HT1) is considered a treatable inherited metabolic disease, particularly when detected early in life. Succinylacetone (SA), a unique metabolic marker for HT1, is normally circulating or excreted at very low physiological concentrations and is significantly increased in HT1 patients.
  
  
  METHODS
  We developed and validated a new method for the determination of SA in urine using high-pressure liquid chromatography with fluorescence detection. SA and its homologue 5,7-dioxooctanoic acid used as internal standard (IS) were extracted from urine, derivatized with pyrenebutyric hydrazide and separated on a C18 column within 11 min. Calibration curves were linear between 0.025 to 100 micromol/l. Within- and between-day variations were <5% and results obtained by the current method compared favorably with a reference liquid chromatography tandem mass spectrometric method. The method was applied retrospectively to the analysis of urine samples from HT1 patients.
  
  
  CONCLUSIONS
  The method requires a minimal sample volume (0.1 ml) with simple instrumentation. The method enabled us to differentiate HT1 cases (n=14) from controls (n=104), regardless of the years of urine storage.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
authors.forename: Osama Y
authors.initials: OY
authors.lastname: Al-Dirbashi
authors.forename: Minnie
authors.initials: M
authors.lastname: Jacob
authors.forename: Lujane Y
authors.initials: LY
authors.lastname: Al-Ahaidib
authors.forename: Khaled
authors.initials: K
authors.lastname: Al-Qahtani
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Rahbeeni
authors.forename: M
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
mesh_terms: D002138:Calibration; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D006537:Heptanoates / Q000652:urine*; D006801:Humans; D007674:Kidney Diseases / Q000652:urine*; D008107:Liver Diseases / Q000652:urine*; D013050:Spectrometry, Fluorescence / Q000379:methods*; D020176:Tyrosinemias / Q000652:urine*
chemical_list: D006537:Heptanoates; C020804:succinylacetone