Abstract
A new patient with medium-chain dicarboxylic aciduria and suberyl glycinuria during an attack of acute illness is reported. When, inadvertently he was given medium-chain triglycerides for 2 days, the excretion of abnormal metabolites of medium-chain fatty acids increased and hepatomegaly became more pronounced. During remission a low excretion of the metabolites were observed. After 16 h of fasting hypoglycaemia was accompanied by an increase of urinary dicarboxylic acids and ψ-hydroxyacids similar to that found on admission. Interestingly this urinary organic acid pattern persisted 8 h after intravenous administration of glucose. In a blood sample obtained after 16 h of fasting there was hypoketonaemia and increased levels of total free fatty acids, octanoic, decanoic andcis-4-decenoic acids. These biochemical data suggest the existence of a deficiency at the level of medium-chain acyl-CoA dehydrogenase.
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Colle, E., Mamer, O. A., Montgomery, J. A. and Miller, J. D. Episodic hypoglycemia with ψ-hydroxy fatty acid excretion.Pediatr. Res. 17 (1983) 171–176
Dorland, L., Duran, M., Wadman, S. K., Niederwieser, A., Bruinvis, L. and Ketting, D. Isovalerylglucuronide, a new urinary metabolite in isovaleric acidemia. Identification problems due to rearrangement reactions.Clin. Chim. Acta 134 (1983) 77–83
Duran, M., de Klerk, J. B. C., van Pelt, J., Wadman, S. K., Scholte, H. R., Beekman, R. P. and Jennekens, F. G. I. The analysis of plasma and urinary organic acids during prolonged fasting differentiates between systemic carnitine deficiency and a defect of fatty acid oxidation.J. Inher. Metab. Dis. 6 Suppl. 2 (1983) 121–122
Gregersen, N., Kølvraa, S., Rasmussen, K., Mortensen, P. B., Divry, P., David, M. and Hobolth, N. General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.Clin. Chim. Acta 132 (1983) 181–191
Gregersen, N., Lauritzen, R. and Rasmussen, K. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.Clin. Chim. Acta 70 (1976) 417–425
Kølvraa, S., Gregersen, N., Cristensen, E. and Hobolth, N.In vitro fibroblasts studies in a patient with C6–C10 dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase.Clin. Chim. Acta 126 (1982) 53–67
Naylor, E. W., Mosovich, L. L., Guthrie, R., Evans, J. E. and Tieckelmann, H. Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in β-oxidation of fatty acids.J. Inher. Metab. Dis. 3 (1980) 19–24
Rhead, W. J., Amendt, B. A., Fritchman, K. S. and Felts, S. J. Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts.Science 221 (1983) 73–75.
Stanley, C. A., Gonzales, E., Yang, W., Kelley, R. I. and Baker, L. Hypoketotic hypoglycemia — evidence for a new defect in fatty acid oxidation.Pediatr. Res. 16 (1982) 263A (abstr.)
Truscott, R. J. W., Hick, L., Pullin, C., Halpern, B., Wilcken, B., Griffiths, H., Silink, M., Kilham, H. and Grunseit, F. Dicarboxylic aciduria: the response to fasting.Clin. Chim. Acta 94 (1979) 31–39
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Del Valle, J.A., Garcia, M.J., Merinero, B. et al. A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome. J Inherit Metab Dis 7, 62–64 (1984). https://doi.org/10.1007/BF01805804
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DOI: https://doi.org/10.1007/BF01805804