Zusammenfassung
Because glycolysis is the most important source of energy in erythrocytes and in some types of skeletal muscle fibres, inherited diseases of glycolysis are mainly characterized by haemolytic anaemia and/or metabolic myopathy. Ten inborn errors of the glycolytic pathway are known, all inherited as an autosomal-recessive trait except the X-linked Phospho-Glycerate-Kinase and Glycerol kinase deficiencies. Hexokinase (HK), glucose-6-phosphate isomerase (GPI) and pyruvate kinase (PKD) deficiencies, cause severe haemolytic anaemia. As these are exclusively haematological disorders they are not discussed further. Muscle phospho-fructo-kinase (PFKM), aldolase A, triosephosphate isomerase (TPI) and phospho-glycerate-kinase (PGK) deficiencies are characterized by haemolytic anaemia alone or coupled with neurological disease and/or myopathy. Phosphoglycerate mutase (PGAM), enolase and lactate dehydrogenase (LDH) deficiencies present with a purely myopathic syndrome characterized by exercise induced cramps and myoglobinuria. Glycerol kinase deficiency (GKD) is an X-linked disorder that is either an isolated condition presenting with hypoglycaemia and acidosis or part of a contiguous gene deletion where it also associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy.Glucose-6-phosphate can also be also formed by the conversion of the glycogen-derived glucose1-phosphate, reaction catalysed by phosphoglucomutase (PGM). PGM1 deficiency is a congenital disorder of glycosylation CDG.
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Wamelink, M.M., Valayannopoulos, V., Garavaglia, B. (2016). Disorders of Glycolysis and the Pentose Phosphate Pathway. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_7
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