Abstract
Pipecolic acid (piperidine-2-carboxylic acid), an imino acid, is an intermediate in the lysine degradation pathway. Its analysis in urine, plasma, and CSF has two diagnostic points of relevance, i.e. giving additional evidence of AASA dehydrogenase deficiency in pyridoxine responsive convulsions, and enabling the distinction between generalized peroxisome biogenesis defects and defects of individual peroxisomal enzymes. Pipecolic acid can be analyzed using tandem mass spectrometry and stable isotope dilution gas chromatography / mass spectrometry. The amino acid analyzer approach has insufficient sensitivity.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
Similar content being viewed by others
References
Wanders RJA (1999) Peroxisomal disorders: clinical, biochemical and molecular aspects. Neurochem Res 24:565–580
Rashed MS, Al-Ahaidib LY, Aboul-Enein HY, Al-Amoudi M and Jacob M. (2001) Determination of l-pipecolic acid in plasma using chiral liquid chromatography-electrospray tandem mass spectrometry. Clin Chem 47:2124–2130
Kok RM, Kaster L, de Jong AP, Poll-The BT, Saudubray JM, Jakobs C (1987) Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography. Clin Chim Acta 168:143–152
Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MAAP, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT (2006) Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12:307–309
Kerckaert I, Poll-The BT, Espeel M, Duran M, Roeleveld AB, Wanders RJA, Roels F (2000) Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classifications as a single peroxisomal enzyme deficiency. Virchows Arch 436:459–465
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Duran, M. (2008). Pipecolic Acid. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_8
Download citation
DOI: https://doi.org/10.1007/978-3-540-76698-8_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-76697-1
Online ISBN: 978-3-540-76698-8
eBook Packages: MedicineMedicine (R0)