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

M M C Wamelink; E A Struys; C Jakobs

doi:10.1007/s10545-008-1015-6

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

J Inherit Metab Dis. 2008 Dec;31(6):703-17. doi: 10.1007/s10545-008-1015-6. Epub 2008 Nov 8.

Authors

M M C Wamelink¹, E A Struys, C Jakobs

Affiliation

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

PMID: 18987987
DOI: 10.1007/s10545-008-1015-6

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.

Publication types

Review

MeSH terms

Glycolysis
Humans
Hypoxia
Metabolism, Inborn Errors / diagnosis*
Metabolism, Inborn Errors / genetics
Models, Biological
Mutation*
NADP / metabolism
Neoplasms / diagnosis
Neoplasms / metabolism
Oxygen / metabolism
Pentose Phosphate Pathway / physiology*
Phenotype
Ribose / metabolism
Transaldolase / deficiency*
Transaldolase / genetics

Substances

NADP
Ribose
Transaldolase
Oxygen