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The phenylpropionic acid load test: Experience with 72 children at-risk for ß-oxidation disorders

Irish Journal of Medical Science volume 161, Article number: 586 (1992) Cite this article

Abstract

The urinary excretion of metabolites of orally administered phenylpropionic acid (PPA) in 72 children, aged 2 days to 16 years, thought to be at-risk of medium acyl CoA dehydrogenase deficiency has been studied. Forty had presented as Reye Syndrome, 9 as a Reye-like syndrome and 24 were sibs of deceased RS, sibs of RLS cases or sibs of infants who had died suddenly and without explanation where an autopsy revealed the presence of very heavy fatty infiltration of the liver. These studies demonstrated that PPA metabolites are maximally excreted during the 3 hours following the oral load and that this urine collection should be diagnostic. PPA loading is a relatively simple, safe test which is part of the investigation of a patient suspected of having an inborn error of metabolism.

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Affiliations

  1. Department of Child Health, The Queen’ s University of Belfast, Institute of Clinical Science, Grosvenor Road, Belfast BT12 6BJ, UK

    J. F. T. Glasgow, R. Moore, P. H. Robinson & P. J. McKiernan

Authors
  1. J. F. T. Glasgow
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  2. R. Moore
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  3. P. H. Robinson
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  4. P. J. McKiernan
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Glasgow, J.F.T., Moore, R., Robinson, P.H. et al. The phenylpropionic acid load test: Experience with 72 children at-risk for ß-oxidation disorders. I.J.M.S. 161, 586 (1992). https://doi.org/10.1007/BF02942363

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  • DOI: https://doi.org/10.1007/BF02942363

Keywords

  • Inborn Error
  • Hippuric Acid
  • Phenylpropionic Acid
  • Reye Syndrome
  • MCAD Deficiency