Journal of Inherited Metabolic Disease

, Volume 22, Issue 3, pp 307–310 | Cite as

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

  • A. H. Bootsma
  • H. Overmars
  • A. van Rooij
  • A. E. M. van Lint
  • R. J. A. Wanders
  • A. H. van Gennip
  • P. Vreken
Article

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

REFERENCES

  1. Bjorkhem I (1994) Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview. Scand J Gastroenterol 204: 68–72.Google Scholar
  2. Clayton PT, Lake BD, Hall NA, Shortland DB, Carathers RA, Lawson AM (1987) Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry. Eur J Pediatr 146: 166–173.Google Scholar
  3. Lawson AM, Madigan MJ, Shortland D, Clayton PT (1986) Rapid diagnosis of Zellweger syndrome and RefsumÏs disease by fast atom bombardment mass spectrometry of urine bile salts. Clin Chim Acta 16: 221–231.Google Scholar
  4. Libert R, Hermans D, Draye JP, van Hoof F, Sokal E, de Hoffmann E (1991) Bile acids and conjugates identified in metabolic disorders by fast atom bombardment and tandem mass spectrometry. Clin Chem 37: 2102–2110.Google Scholar
  5. Mills KA, Mustaq I, Johnson AW, Whitfield PD, Clayton PT (1998) A method for the quantitation of conjugated bile acids in dried blood spots using electrospray ionization-mass spectrometry. Pediatr Res 43: 361–368.Google Scholar
  6. Parmentier GG, Janssen GA, Eggemeont EA, Eyssen HJ (1979) bile acids in infants with C27 coprostanic acidemia and occurrence of a 3α,7α,12α-trithydroxy-5β-dicarboxylic bile C29 acid as a major component in their serum. Eur J Biochem 102: 173–183.Google Scholar
  7. Wanders RJA, Schutgens RBH, Barth PG. (1995) Peroxisomal disorders: a review. J Neuropathol Exp Neurol 54: 726–739.Google Scholar
  8. Wanders RJA, Barth PG, Schutgens RBH, Heymans HSA (1996) Peroxisomal disorders: post-and prenatal diagnosis based on a new classification with flowcharts. Int Pediatr 11: 203–214.Google Scholar

Copyright information

© Kluwer Academic Publishers 1999

Authors and Affiliations

  • A. H. Bootsma
    • 1
  • H. Overmars
    • 1
  • A. van Rooij
    • 1
  • A. E. M. van Lint
    • 1
  • R. J. A. Wanders
    • 1
  • A. H. van Gennip
    • 1
  • P. Vreken
    • 1
  1. 1.Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands

Personalised recommendations