Polyols
Chapter
Abstract
Abstract Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date, like galactosemia, sorbitol dehydrogenase deficiency, pentosuria, transaldolase deficiency and ribose-5-phosphate isomerase deficiency. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. The current chapter describes two highly sensitive, quantitative methods for determination of polyols in urine by liquid chromatography tandem mass spectrometry. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.
Keywords
Inborn Error Sorbitol Dehydrogenase Classical Galactosaemia Isocratic Eluent Transaldolase Deficiency
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References
- 1.Endres W, Shin YS (1985) Cataract and metabolic disease. J Inherit Metab Dis 13:509–516CrossRefGoogle Scholar
- 2.Huck HJ, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS (2004) Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74:745–751PubMedCrossRefGoogle Scholar
- 3.Jansen G, Muskiet FA, Schierbeek H, Berger R, van der Slik SW (1986) Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 157: 277–293PubMedCrossRefGoogle Scholar
- 4.Karabinos JV, Ballun AT (1953) Direct reduction of aldoses and ketoses by Raney nickel. J Am Chem Soc 75:4501–4502CrossRefGoogle Scholar
- 5.Lane AB (1985) On the nature of L-xylulose reductase deficiency in essential pentosuria. Biochem Genet 23:61–72PubMedCrossRefGoogle Scholar
- 6.Lee AY, Chung SS (1999) Contributions of polyol pathway to oxidative stress in diabetic cataract. FASEB J 13:23–30PubMedGoogle Scholar
- 7.Onkenhout W, Groener JE, Verhoeven NM, Yin C, Laan LA (2002) L-Arabinosuria: a new defect in human pentose metabolism. Mol Genet Metab 77:80–85PubMedCrossRefGoogle Scholar
- 8.Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68:1086–1092PubMedCrossRefGoogle Scholar
- 9.Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 2:169–179CrossRefGoogle Scholar
- 10.Wamelink MM, Smith DE, Jakobs C, Verhoeven NM (2005) Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism. J Inherit Metab Dis 28:951–963PubMedCrossRefGoogle Scholar
- 11.Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM (2005) Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci 823:18–25PubMedCrossRefGoogle Scholar
- 12.Wamelink MM, Smith DEC, Jansen EEW, Verhoeven NM, Struys EA, Jakobs C (2007) Detection of Transaldolase Deficiency by Quantitation of Novel Seven-Carbon Chain Carbohydrate Biomarkers in Urine. J Inherit Metab Dis 30: 735-742PubMedCrossRefGoogle Scholar
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