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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References
Anon. Sudden Infant Death and Inherited Disorders of Fat Oxidation. (Editorial). Lancet 1986: ii, 1073–5.
Pollitt, R. J. Inherited disorders of straight chain fatty acid oxidation. Arch Dis. Child. 1987: 62, 6–7.
Rumsby, G., Seakins, J. W. T., Leonard, J. V. A simple screening test for medium chain acyl CoA dchydrogenase deficiency. Lancet 1986: ii, 467 (Letter).
Seakins, J. W. T., Rumsby, G. The use of phenylpropionic acid as a loading test for medium chain acyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 1988: 11. (Suppl. 2), 221–4.
Moore, R., Millington, D. S., Norwood, D.etal. Identification of phenylpropionyl camitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 1990: 13, 325–29.
Hall, S., Bellman, M. Reye’s Syndrome in the British Isles: First annual report of the joint British Paediatric Association and Communicable Disease Surveillance Centre Surveillance Scheme. Br. Med. J. 1984: 288, 548–60.
Roe, C. R., Millington, D. S., Maltby, D. A. Recognition of medium chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden death or Reye-like syndromes. J. Pediatr. 1986: 108, 13–18.
Bennett, M. J., Variend, S., Pollitt, R. J. Screening siblings for inborn errors of fatty acid metabolism in families with a history of sudden infant death. Lancet 1986: ii, 1470 (Letter).
Rumsby, G. Belloque, J., Ersser, R. S.et al. Effect of temperature and sample preparation on performance of ion moderated partition chromatography of organic acids in biologcial fluids. Clin. Chim. Acta 1987: 163, 171–83.
Duran, M., van Vossen, R., Bruinvis, L. The fate of orally ingested 3-phenylpropionic acid. In: Tanaka, K., Coates, P. M. (eds.). Progress in Clinical and Biological Research, vol. 321: Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. Liss, New York, 1990: pp. 419–26.
Wanders, R. J., Ijlst, L., van Gennip, A. H.et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta oxidation. J. Inherit. Metab. Dis. 1990: 13, 311–14.
Anon. Reye Syndrome 1988/89 Update. Communicable Disease Report 1990: 90/09, 4.
Anon. (1987). British Paediatric Surveillance Unit (BPSU)/CDSC Reye’ s Syndrome Surveillance Scheme - Fourth Summary Surveillance Report. Communicable Disease Report 1987: 87/38, 3–6.
Hurwitz, E. S. The changing epidemiology of Reye’ s syndrome in the United States: further evidence of a public health success. J. Am. Med. Ass. 1988: 260, 3178–80.
Hall, S. M. British Paediatric Surveillance Unit (BPSU)/CDSC Reye’ s Syndrome Surveillance Scheme - Update. Communicable Disease Report 1989: 89/38, 3.
Bennett, M. J., Allison, F., Pollitt, R. J.et al. Fatty acid oxidation defects as causes of unexpected death in infancy. In: Tanaka, K., Coates, P. M. (eds.). Progress in Clinical and Biological Research, vol. 321: Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects. Liss, New York, 1990: pp. 349–364.
Gregersen, N., Lauritzon, R., Rasmussen, K. Suberyl-glycine excretion in the urine of a patient with dicarboxylic aciduria. Clin. Chim. Acta 1976: 70, 417–25.
Matsubara, Y., Narisawa, K., Miyabayashi, S.et al. Identification of a common mutation in patients with MCAD deficiency. Biochem. Biophys. Res. Commun. 1990: 171, 498–505.
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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, 586–588 (1992). https://doi.org/10.1007/BF02942363
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DOI: https://doi.org/10.1007/BF02942363