Skip to main content
SpringerLink
Log in
Book cover

Inherited Disorders of Vitamins and Cofactors pp 141–142Cite as

L-Carnitine and Glycine Therapy in Isovaleric Acidaemia

  • Chapter

  • 76 Accesses

Abstract

Isovaleric acidaemia (McKusick 24350) is a disorder of leucine catabolism characterized clinically by episodes of acidosis and coma with consequent mild psychomotor retardation. Biochemically, the disorder is caused by deficient activity of isovaleryl-CoA dehydrogenase associated with accumulation of isovaleryl-CoA and its metabolites, isovalerylglycine and 3-hydroxyisovalerate.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Chalmers, R. A., Roe, C. R., Tracey, B. M., Stacey, T., Hoppel, C. L. and Millington, D. S. Secondary carnitine insufficiency in disorders of organic acid metabolism: modulation of acyl CoA/CoA ratios by L-carnitine in vivo. Biochem. Soc. Trans. 11 (1983)724–725

    CAS  Google Scholar 

  • Dubiel, B., Dabrowski, C., Wetts, R. and Tanaka, K. Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. J. Clin. Invest. 72 (1983) 1543–1552

    Article  PubMed  CAS  Google Scholar 

  • Kreiger, I. and Tanaka, K. Therapeutic effects of glycine in isovaleric acidemia. Pediatr. Res. 10 (1976) 25–29

    Article  Google Scholar 

  • Roe, C. R., Hoppel, C. L., Stacey, T. E., Chalmers, R. A., Tracey, B. M. and Millington, D. S. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch. Dis. Child. 58 (1983) 916–920

    Article  PubMed  CAS  Google Scholar 

  • Truscott, R. J. W., Malegan, D., McCairns, E., Burke, D., Hicks, L., Sims, P., Halpern, B., Tanaka, K., Sweetman, L., Nyhan, W. L., Hammond, J., Bumack, C., Haan, E. A. and Danks, D. M. New metabolites in isovaleric acidemia. Clin. Chim. Acta 110 (1981) 187–203

    Article  PubMed  CAS  Google Scholar 

  • Wysocki, S. J., French, N. P. and Grauaug, A. Organic aciduria associated with isovaleric aciduria. Clin. Chem. 29 (1983) 1002–1003

    PubMed  CAS  Google Scholar 

  • Yudkoff, M., Cohn, R. M., Puschak, R., Rothman, R. and Segal, S. Glycine therapy in isovaleric acidemia. J. Pediatr. 92 (1978) 813–817

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Paediatric Research Group, MRC Clinical Research Centre, Harrow, HA1 3UJ, UK

    R. A. Chalmers, C. de Sousa, B. M. Tracey & T. E. Stacey

  2. Department of Child Health and Medicine, University Hospital of Wales, Cardiff, UK

    C. Weaver & D. Bradley

Authors
  1. R. A. Chalmers
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. de Sousa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. M. Tracey
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. T. E. Stacey
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. Weaver
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. D. Bradley
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

G. M. Addison K. Bartlett R. A. Harkness R. J. Pollitt

Rights and permissions

Reprints and permissions

Copyright information

© 1985 SSIEM and MTP Press Limited

About this chapter

Cite this chapter

Chalmers, R.A., de Sousa, C., Tracey, B.M., Stacey, T.E., Weaver, C., Bradley, D. (1985). L-Carnitine and Glycine Therapy in Isovaleric Acidaemia. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_43

Download citation

  • DOI: https://doi.org/10.1007/978-94-011-8019-1_43

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-94-011-8021-4

  • Online ISBN: 978-94-011-8019-1

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation