Abstract
Three inborn errors in the pentose phosphate pathway (PPP) are known.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Wamelink MM, Struys EA, Jansen EE et al. (2008) Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. Hum Mutat 29:532–536
Knaap v d MS, Wevers RA, Struys EA et al. (1999) Leukoencephalopathy associated with a disturbance in the metabolism of polyols. Ann Neurol 46:925–928
Huck JHJ, Verhoeven NM, Struys EA et al. (2004) Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet 74:745–751
Verhoeven NM, Huck JH, Roos B et al. (2001) Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway. Am J Hum Genet 68:1086–1092
Verhoeven NM, Wallot M, Huck JHJ et al. (2005) A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency. J Inherit Metab Dis 28:169–179
Valayannopoulos V, Verhoeven N, Mention K et al. (2006) Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. J Pediatr 149:713–717
Wamelink MM, Struys EA, Salomons GS et al. (2008) Transaldolase deficiency in a two year-old boy with cirrhosis. Mol Genet Metab 29:532–536
Wamelink MMC, Struys EA, Jakobs C (2008) The biochemistry, metabolism and inherited defect of the pentose phosphate pathway: a review. J Inherit Metab Dis 31:703–717
Tylki-Szymańska A, Stradomska TJ, Wamelink MM et al. (2009) Transaldolase deficiency in two new patients with a relative mild phenotype. Mol Genet Metab 97:15–17
Fung CW, Siu S, Mac C et al. (2007) A rare cause of hepatosplenomegaly: transaldolase deficiency. J Inherit Metab Dis 30 [Suppl1] 62
Engelke UFH, Zijlstra FSM, Mochel F et al. (2010) Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta 1802:1028–1035
Wamelink MM, Smith DE, Jakobs C et al. (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 28:951–963
Wamelink MM, Smith DEC, Janssen EEW et al. (2007) Detection of transaldolase deficiency by quantitation of novel seven-carbon chain carbohydrate biomarkers in urine. J Inherit Metab Dis 30:735–742
Huck JH, Struys EA, Verhoeven NM et al. (2003) Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem 49:1375–1380
Wamelink MM, Struys EA, Gonzales M et al. (2008) Retrospective detection of transaldolase deficiency in amniotic fluid. Prenat Diagn 28:460–462
Hanczko R, Fernandez DR, Doherty E et al. (2009) Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine. J Clin Invest 119:1546–1557
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Wamelink, M.M.C., Valayannopoulos, V., Jakobs, C. (2012). Disorders of the Pentose Phosphate Pathway. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_8
Download citation
DOI: https://doi.org/10.1007/978-3-642-15720-2_8
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-15719-6
Online ISBN: 978-3-642-15720-2
eBook Packages: MedicineMedicine (R0)