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PMID: 18987987 Published · ppublish English Journal Article Review

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

Journal of inherited metabolic disease ·Vol. 31 ·No. 6 ·2008-12-00 ·Pages 703-17

Wamelink MM, Struys EA, Jakobs C

Abstract

The recent discovery of two defects (ribose-5-phosphate isomerase deficiency and transaldolase deficiency) in the reversible part of the pentose phosphate pathway (PPP) has stimulated interest in this pathway. In this review we describe the functions of the PPP, its relation to other pathways of carbohydrate metabolism and an overview of the metabolic defects in the reversible part of the PPP.

MeSH Terms
Glycolysis Humans Hypoxia Metabolism, Inborn Errors/diagnosis,genetics Models, Biological Mutation NADP/metabolism Neoplasms/diagnosis,metabolism Oxygen/metabolism Pentose Phosphate Pathway/physiology Phenotype Ribose/metabolism Transaldolase/deficiency,genetics
Chemicals
NADP Ribose Transaldolase Oxygen
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Wamelink M M C
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands. [email protected]
Struys E A
Jakobs C
References (56)
56 references, click to expand
  1. High-performance liquid chromatographic system for separating sugar phosphates and other intermediary metabolites.
    J Chromatogr B Biomed Appl. 1995 Jul 21;669(2):171-6 PMID: 7581893
  2. Glutathione levels and sensitivity to apoptosis are regulated by changes in transaldolase expression.
    J Biol Chem. 1996 Dec 20;271(51):32994-3001 PMID: 8955144
  3. Improved method of analysis of biomass sugars using high-performance liquid chromatography.
    Biotechnol Lett. 2004 Aug;26(15):1207-11 PMID: 15289675
  4. A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
    J Inherit Metab Dis. 2005;28(2):169-79 PMID: 15877206
  5. Expression of transketolase TKTL1 predicts colon and urothelial cancer patient survival: Warburg effect reinterpreted.
    Br J Cancer. 2006 Feb 27;94(4):578-85 PMID: 16465194
  6. Potential role of nuclear translocation of glyceraldehyde-3-phosphate dehydrogenase in apoptosis and oxidative stress.
    J Cell Sci. 2001 May;114(Pt 9):1643-53 PMID: 11309196
  7. Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.
    Biochem J. 2008 Oct 1;415(1):123-34 PMID: 18498245
  8. Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress.
    J Biol. 2007 Dec 21;6(4):10 PMID: 18154684
  9. 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. 2005 Aug 25;823(1):18-25 PMID: 16055050
  10. Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
    Clin Chem. 2003 Aug;49(8):1375-80 PMID: 12881455
  11. Transaldolase is essential for maintenance of the mitochondrial transmembrane potential and fertility of spermatozoa.
    Proc Natl Acad Sci U S A. 2006 Oct 3;103(40):14813-8 PMID: 17003133
  12. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
    Hum Mutat. 2008 Apr;29(4):532-6 PMID: 18186520
  13. Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
    J Pediatr. 2006 Nov;149(5):713-7 PMID: 17095351
  14. The power to reduce: pyridine nucleotides--small molecules with a multitude of functions.
    Biochem J. 2007 Mar 1;402(2):205-18 PMID: 17295611
  15. Liquid chromatography of sugars on silica-based stationary phases.
    J Chromatogr. 1981 Dec 25;220(3):313-28 PMID: 7035476
  16. 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. 1986 Jun 30;157(3):277-93 PMID: 3731489
  17. L-Arabinosuria: a new defect in human pentose metabolism.
    Mol Genet Metab. 2002 Sep-Oct;77(1-2):80-5 PMID: 12359133
  18. Increased myocardial dysfunction after ischemia-reperfusion in mice lacking glucose-6-phosphate dehydrogenase.
    Circulation. 2004 Feb 24;109(7):898-903 PMID: 14757696
  19. Determination of polyol profiles in human urine by capillary gas chromatography.
    Biomed Chromatogr. 1989 Mar;3(2):68-71 PMID: 2736321
  20. Glucose-6-phosphate dehydrogenase deficiency.
    Lancet. 2008 Jan 5;371(9606):64-74 PMID: 18177777
  21. An increase in S-glutathionylated proteins in the Alzheimer's disease inferior parietal lobule, a proteomics approach.
    J Neurosci Res. 2007 May 15;85(7):1506-14 PMID: 17387692
  22. Glyceraldehyde-3-phosphate dehydrogenase, apoptosis, and neurodegenerative diseases.
    Annu Rev Pharmacol Toxicol. 2005;45:269-90 PMID: 15822178
  23. Cytosolic NAD(P)H regulation of redox signaling and vascular oxygen sensing.
    Antioxid Redox Signal. 2007 Jun;9(6):671-8 PMID: 17511583
  24. Ion-exchange chromatography of nitrogen compounds.
    J Chromatogr. 1974 Mar 27;98(1):1-54 PMID: 4595879
  25. Pentose phosphate cycle oxidative and nonoxidative balance: A new vulnerable target for overcoming drug resistance in cancer.
    Int J Cancer. 2006 Dec 15;119(12 ):2733-41 PMID: 17019714
  26. Glucose-6-phosphate dehydrogenase: a "housekeeping" enzyme subject to tissue-specific regulation by hormones, nutrients, and oxidant stress.
    FASEB J. 1994 Feb;8(2):174-81 PMID: 8119488
  27. Crystal structure of the S. cerevisiae D-ribose-5-phosphate isomerase: comparison with the archaeal and bacterial enzymes.
    Biochimie. 2005 Aug;87(8):763-9 PMID: 16054529
  28. Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.
    J Mass Spectrom. 2006 Apr;41(4):463-9 PMID: 16470722
  29. Role of pentose phosphate pathway-derived NADPH in hypoxic pulmonary vasoconstriction.
    Pulm Pharmacol Ther. 2006;19(4):303-9 PMID: 16203165
  30. Separation of glycolytic metabolites by column chromatography.
    Anal Biochem. 1974 Sep;61(1):54-61 PMID: 4278264
  31. 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. 2005;28(6):951-63 PMID: 16435188
  32. Leukoencephalopathy associated with a disturbance in the metabolism of polyols.
    Ann Neurol. 1999 Dec;46(6):925-8 PMID: 10589548
  33. Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.
    Clin Chem. 2001 Aug;47(8):1364-72 PMID: 11468223
  34. Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.
    Biochem J. 2004 Sep 1;382(Pt 2):725-31 PMID: 15115436
  35. Estimation of neutral sugars and sugar alcohols in biological fluids by gas-liquid chromatography.
    J Chromatogr. 1980 Nov 7;184(4):457-70 PMID: 7451591
  36. Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
    Am J Hum Genet. 2001 May;68(5):1086-92 PMID: 11283793
  37. Aspects of carbohydrate metabolism in developing brain.
    Dev Med Child Neurol. 1977 Feb;19(1):81-104 PMID: 14860
  38. Glucose 6-phosphate dehydrogenase: genetic and haematological aspects.
    Cell Biochem Funct. 1987 Apr;5(2):101-7 PMID: 3472678
  39. Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
    J Inherit Metab Dis. 2007 Oct;30(5):735-42 PMID: 17603756
  40. Transaldolase exhibits a protective role against menadione toxicity in Xanthomonas campestris pv. phaseoli.
    Biochem Biophys Res Commun. 2002 Oct 4;297(4):968-73 PMID: 12359249
  41. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
    Genome Res. 2000 Feb;10(2):165-73 PMID: 10673275
  42. Polyol concentrations in the fluid compartments of the human conceptus during the first trimester of pregnancy: maintenance of redox potential in a low oxygen environment.
    J Clin Endocrinol Metab. 2005 Feb;90(2):1171-5 PMID: 15562012
  43. Protein S-thiolation targets glycolysis and protein synthesis in response to oxidative stress in the yeast Saccharomyces cerevisiae.
    Biochem J. 2003 Sep 1;374(Pt 2):513-9 PMID: 12755685
  44. Effects of changes in brain metabolism on levels of pentose phosphate pathway intermediates.
    J Biol Chem. 1969 Jul 10;244(13):3647-53 PMID: 5794230
  45. Hydroperoxide-induced oxidative stress impairs heart muscle cell carbohydrate metabolism.
    Am J Physiol. 1994 Jan;266(1 Pt 1):C179-88 PMID: 8304415
  46. Inhibition of GAPDH activity by poly(ADP-ribose) polymerase activates three major pathways of hyperglycemic damage in endothelial cells.
    J Clin Invest. 2003 Oct;112(7):1049-57 PMID: 14523042
  47. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
    Am J Hum Genet. 2004 Apr;74(4):745-51 PMID: 14988808
  48. The pentose phosphate pathway of glucose metabolism. Influence of a growth-hormone-secreting pituitary tumour on the oxidative and non-oxidative reactions of the cycle in liver.
    Biochem J. 1969 Jun;113(1):215-20 PMID: 5806393
  49. Cleanup and analysis of sugar phosphates in biological extracts by using solid-phase extraction and anion-exchange chromatography with pulsed amperometric detection.
    Anal Biochem. 1998 Jul 15;261(1):36-42 PMID: 9683509
  50. The three-dimensional structure of human transaldolase.
    FEBS Lett. 2000 Jun 23;475(3):205-8 PMID: 10869557
  51. Regulation of protein S-thiolation by glutaredoxin 5 in the yeast Saccharomyces cerevisiae.
    J Biol Chem. 2002 May 10;277(19):16853-9 PMID: 11882660
  52. Metabolic control of resistance of human epithelial cells to H2O2 and NO stresses.
    Biochem J. 2002 Jun 1;364(Pt 2):349-59 PMID: 12023877
  53. Mutations in the transketolase-like gene TKTL1: clinical implications for neurodegenerative diseases, diabetes and cancer.
    Clin Lab. 2005;51(5-6):257-73 PMID: 15991799
  54. Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
    Prenat Diagn. 2008 May;28(5):460-2 PMID: 18444224
  55. Transaldolase deficiency in a two-year-old boy with cirrhosis.
    Mol Genet Metab. 2008 Jun;94(2):255-8 PMID: 18331807
  56. Cloning and expression of the human gene for transaldolase. A novel highly repetitive element constitutes an integral part of the coding sequence.
    J Biol Chem. 1994 Jan 28;269(4):2847-51 PMID: 8300619
Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
1573-2665
DOI
10.1007/s10545-008-1015-6
Email
[email protected]
Published
2008-12-00
Epub
2008-00-08
Pages
703-17
Language
English
Region
United States
NLM ID
7910918
Subset
IM
Corrections
CommentIn
PMID: 19015949
External Links
PubMed source DOI: 10.1007/s10545-008-1015-6 View journal details
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