SpringerLink
Log in

Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years

  • Short Report
  • Published:
Journal of Inherited Metabolic Disease

Summary

A 36-year follow-up on the original patient described with methylmalonic aciduria has shown that she has methylmalonyl-CoA apomutase deficiency. The main clinical problem associated with her methylmalonic aciduria is progressive renal impairment requiring commencement of haemodialysis at 42 years of age.

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

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  • Oberholzer VG, Levin B, Burgess EA, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42: 492–504.

    CAS  PubMed  Google Scholar 

Download references

Author information

Author notes

  1. R. A. Chalmers

    Present address: CIMOA, The London BioScience Innovation Centre, 2, Royal College Street, London, NW1 0NH, UK

Authors and Affiliations

  1. Paediatric Metabolism Unit, St George's Hospital Medical School, London

    M. D. Bain, M. G. Jones & R. A. Chalmers

  2. Department of Renal Medicine, St George's Hospital Medical School, London

    D. Oliveira

  3. Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Manchester

    J. Till & G. T. N. Besley

  4. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK

    P. Lee

  5. Division of Child Health, Department of Clinical Developmental Sciences, St George's Hospital Medical School, Cranmer Terrace, London, SW17 0RE, UK

    M. D. Bain

Authors
  1. M. D. Bain
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. Till
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. G. Jones
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. G. T. N. Besley
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P. Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. D. Oliveira
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. R. A. Chalmers
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. D. Bain.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bain, M.D., Till, J., Jones, M.G. et al. Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years. J Inherit Metab Dis 28, 1179–1180 (2005). https://doi.org/10.1007/s10545-005-0244-1

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-005-0244-1

Keywords

Search

Navigation