Disorders of glycolysis and the pentose phosphate pathway

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.