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Hypermethioninaemia and 3-Hydroxyisobutyric aciduria in an apparently healthy baby

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Journal of Inherited Metabolic Disease

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.

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References

  • 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) 203–207

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  • 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) 3692–3696

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Authors and Affiliations

  1. Bradford Royal Infirmary, Duckworth Lane, BD9 6RJ, Bradford, UK

    P. J. Congdon, D. Haigh & R. Smith

  2. Department of Chemical Pathology, Children's Hospital, S10 2TH, Sheffield, UK

    Anne Green

  3. University Department of Psychiatry, Middlewood Hospital, PO Box 134, S6 1TP, Sheffield, UK

    R. J. Pollitt

  4. External Scientific Staff, Medical Research Council, UK

    R. J. Pollitt

Authors
  1. P. J. Congdon
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  2. D. Haigh
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  3. R. Smith
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  4. Anne Green
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  5. R. J. Pollitt
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Congdon, P.J., Haigh, D., Smith, R. et al. Hypermethioninaemia and 3-Hydroxyisobutyric aciduria in an apparently healthy baby. J Inherit Metab Dis 4, 79–80 (1981). https://doi.org/10.1007/BF02263600

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  • DOI: https://doi.org/10.1007/BF02263600

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