Disorders of glycolysis and the pentose phosphate pathway

Mirjam M. C. Wamelink, Vassili Valayannopoulos, Barbara Garavaglia

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review


Glycolysis which converts each molecule of glucose to two of pyruvate is the most important source of energy in erythrocytes and in some types of skeletal muscle fibres, therefore inherited diseases of glycolysis are mainly characterized by haemolytic anaemia and/or metabolic myopathy. Ten inborn errors of the glycolytic pathway are known. The pentose phosphate pathway consists of two distinct parts: the first part, an oxidative, non-reversible pathway, produces NADPH, and the second part, a non-oxidative, reversible pathway, produces ribose for nucleotide and nucleic acid synthesis and connects intermediates to glycolysis. Four inborn errors in the pentose phosphate pathway (PPP) are known.
Original languageEnglish
Title of host publicationInborn Metabolic Diseases: Diagnosis and Treatment
PublisherSpringer Berlin Heidelberg
ISBN (Electronic)9783662631232
ISBN (Print)9783662631225
Publication statusPublished - 24 Jun 2022

Publication series

NameInborn Metabolic Diseases: Diagnosis and Treatment

Cite this