Journal of Inherited Metabolic Disease

, Volume 4, Issue 1, pp 79–80 | Cite as

Hypermethioninaemia and 3-Hydroxyisobutyric aciduria in an apparently healthy baby

  • P. J. Congdon
  • D. Haigh
  • R. Smith
  • Anne Green
  • R. J. Pollitt
Work In Progress

Abstract

An apparently healthy baby with persistent hypermethioninaemia excretes increased amounts of 3-hydroxyisobutyrate, 3-hydroxypropionate, β-aminoisobutyrate and β-alanine. A defect in the oxidation of methylmalonic and malonic semialdehydes is proposed but the cause of the hypermethioninaemia is obscure.

Keywords

Public Health Internal Medicine Metabolic Disease Methylmalonic Healthy Baby 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Solem, E., Agarwal, D. P. and Goedde, H. W. The determination of β-aminoisobutyric acid in human serum by ionexchange chromatography.Clin. Chim. Acta 59 (1975) 203–207Google Scholar
  2. Tanaka, K., Armitage, I. M., Ramsdell, H. S., Hsia, Y. E., Lipsky, S. R. and Rosenberg, L. E. [13C] Valine metabolism in methylmalonic acidemia using nuclear magnetic resonance: propionate as an obligate intermediate.Proc. Natl. Acad. Sci. USA 72 (1975) 3692–3696Google Scholar

Copyright information

© MTP Press Limited 1981

Authors and Affiliations

  • P. J. Congdon
    • 1
  • D. Haigh
    • 1
  • R. Smith
    • 1
  • Anne Green
    • 2
  • R. J. Pollitt
    • 3
    • 4
  1. 1.Bradford Royal InfirmaryBradfordUK
  2. 2.Department of Chemical PathologyChildren's HospitalSheffieldUK
  3. 3.University Department of PsychiatryMiddlewood HospitalSheffieldUK
  4. 4.External Scientific StaffMedical Research CouncilUK

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