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Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia

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Book cover Inborn Errors of Metabolism in Humans

Abstract

By the end of the 1960’s it was clear that most patients with the then-called ‘ketotic hyperglycinaemia syndrome’ had either of two inherited metabolic disorders — propionic acidaemia due to propionyl CoA carboxylase (PCC) deficiency, or methylmalonic acidaemia due to methylmalonyl CoA mutase (MUT) deficiency1. PCC and MUT, each found in the mitochondrial matrix of mammalian cells, act on nearly sequential steps in the ‘propionate pathway’ by which several essential amino acids, odd-chain fatty acids, the side chain of cholesterol, and certain pyrimidines are catabolized to succinyl CoA and enter the tricarboxylic-acid cycle (Figure 3.1). PCC, a biotin-dependent enzyme, catalyses the conversion of propionyl CoA to D-methylmalonyl CoA; MUT, a cobalamin (vitamin B12)-dependent enzyme, catalyses the isomerization of L-methylmalonyl CoA to succinyl CoA.

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References

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Authors
  1. L. E. Rosenberg
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Editors and Affiliations

  1. University Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, G3 8SJ, UK

    Forrester Cockburn

  2. Division of Metabolism, University Paediatric Department, Kinderspital, 8032, Zurich, Switzerland

    Richard Gitzelmann

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© 1982 The Society for the Study of Inborn Errors of Metabolism

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Rosenberg, L.E. (1982). Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia. In: Cockburn, F., Gitzelmann, R. (eds) Inborn Errors of Metabolism in Humans. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-7325-1_3

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  • DOI: https://doi.org/10.1007/978-94-009-7325-1_3

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-009-7327-5

  • Online ISBN: 978-94-009-7325-1

  • eBook Packages: Springer Book Archive

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