Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry

Anal Bioanal Chem. 2006 Dec;386(7-8):2013-7. doi: 10.1007/s00216-006-0831-5. Epub 2006 Oct 20.

Abstract

A liquid chromatography tandem mass spectrometric method is described for the analysis of homocitrulline in human urine, a key metabolite in the differential diagnosis of hyperammonemia, hyperornithinemia, homocitrullinuria (HHH) syndrome. Urine samples were prepared by mere five-fold dilution with a mixture of internal standards (2H2-citrulline and 2H3-creatinine) used for the simultaneous quantification of creatinine. Analytes were separated on a cyano column and eluted isocratically within seven min. Detection was achieved by monitoring transitions of 190 > 84 and 190 > 127 for homocitrulline, 178 > 115 for 2H2-citrulline, 114 > 44 for creatinine and 117 > 47 for 2H3-creatinine. Calibration curves were linear up to 100 micromol/L. Intraday (n = 7) and interday (n = 6) variations were less than 10%. In urine samples from three siblings confirmed to have HHH syndrome, homocitrulline levels were at 13.3 (74), 21.1 (50) and 108.2 (103) mmol/mol creatinine (micromol/L). Control values were 0-9 mmol/mol creatinine (n = 120). The current method solves specificity issues in homocitrulline determination often encountered with some ninhydrin-based systems (coelution with methionine) and some o-phthalaldehyde-based ones (coelution with taurine), and presents an attractive alternative with a relatively high throughput.

MeSH terms

  • Ammonia / metabolism*
  • Chromatography, Liquid / methods*
  • Citrulline / analogs & derivatives*
  • Citrulline / metabolism*
  • Citrulline / urine
  • Creatinine / metabolism
  • Humans
  • Mass Spectrometry / methods*
  • Ornithine / metabolism*
  • Syndrome

Substances

  • homocitrulline
  • Citrulline
  • Ammonia
  • Creatinine
  • Ornithine