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

  • Metabolic Dissertation
  • Published:
Journal of Inherited Metabolic Disease

Summary

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.

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Authors and Affiliations

  1. Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands

    M. M. C. Wamelink, E. A. Struys & C. Jakobs

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  1. M. M. C. Wamelink
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  2. E. A. Struys
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  3. C. Jakobs
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Corresponding author

Correspondence to M. M. C. Wamelink.

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Communicating editor: Gerard Berry

Competing interests: None declared

Prof. Dr. Cornelis Jakobs was supervisor of this PhD project and Dr. Eduard A. Struys was co-supervisor

References to electronic databases: Transaldolase: EC 2.2.1.2. Ribose-5-phosphate isomerase: EC 5.3.1.6. Xylitol dehydrogenase: EC 1.1.1.9. Glucose-6-phosphate dehydrogenase: EC 1.1.1.49. Transaldolase deficiency: OMIM #606003. Ribose-5-phosphate isomerase deficiency: OMIM #608611. Pentosuria: %260800. Glucose-6-phosphate dehydrogenase deficiency OMIM +305900. TALDO1: GenBank # NM_006755. RPIA: GenBank # NM_144563.

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Wamelink, M.M.C., Struys, E.A. & Jakobs, C. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: A review. J Inherit Metab Dis 31, 703–717 (2008). https://doi.org/10.1007/s10545-008-1015-6

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