Abstract
Two patients with methylmalonic acidaemia due to methylmalonyl-CoA mutase deficiency were studied for several years. Both exhibited at least two attacks of severe ketoacidosis, during which they excreted, in addition to methylmalonic acid, a number of abnormal compounds: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, citraconic acid andN-tiglylglycine. These compounds represent partly intermediary metabolites from the isoleucine degradation pathway and partly secondary metabolites of propionyl-CoA and tiglyl-CoA.
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Duran, M., Gompertz, D., Bruinvis, L., Ketting, D. and Wadman, S. K. (1978). The variability of metabolite excretion in propionic acidaemia.Clin. Chim. Acta,82, 93
Folch, J., Lees, M. and Sloane Stanley, G. H. (1957). A simple method for the isolation and purification of total lipids from animal tissues.J. Biol. Chem.,226, 497
Gompertz, D., Saudubray, J.-M., Charpentier, C., Bartlett, K., Goodey, P. A. and Draffan, G. H. (1974). A defect in isolecuine metabolism associated with α-methyl-β-hydroxybutyric and α-methylacetoacetic aciduria: quantitativein vivo andin vitro studies.Clin. Chim. Acta,57, 269
Kamerling, J. P., Duran, M., Bruinvis, L., Ketting, D., Wadman, S. K., de Groot, C. J. and Hommes, F. A. (1977). (2-Ethoxethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids.Clin. Chim. Acta,77, 397
Landaas, S. (1975). Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis.Clin. Chim. Acta,64, 143
Landaas, S. and Pettersen, J. E. (1975). Clinical conditions associated with the urinary excretion of 2-hydroxybutyric acid.Scand. J. Clin. Lab. Invest.,35, 259
Oberholzer, V. G., Levin, B., Burgess, E. A and Young, W. F. (1967). Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.Arch. Dis. Child.,42, 492
Stokke, O., Jellum, E., Eldjarn, L. and Schnitler, R. (1973). The occurrence of β-hydroxy-n-valeric acid in a patient with propionic and methylmalonic acidaemia.Clin. Chim. Acta,45, 391
Sweetman, L., Holm, J. and Nyhan, W. L. (1975). 2-Methyl-acetoacetic acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxy-n-valeric acid in propionic acidaemia.Clin. Res.,23, 156A
Sweetman, L., Weyler, W., Nyhan, W. L., de Céspedes, C., Loria, A. R. and Estrada, Y. (1978). Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.Biomed. Mass Spectrom.,5, 198
Wadman, S. K., van der Heiden, C., Ketting, D. and van Sprang, F. J. (1971). Abnormal tyrosine and phenylalanine metabolism in patients with tyrosyluria and phenylketonuria: gas-liquid chromatographic analysis of urinary metabolites.Clin. Chim. Acta,34, 277
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Duran, M., Bruinvis, L., Ketting, D. et al. Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia. J Inherit Metab Dis 1, 105–107 (1978). https://doi.org/10.1007/BF01805683
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DOI: https://doi.org/10.1007/BF01805683