Abstract
A new metabolic disorder characterised by the excessive excretion of β-alanine, 3-hydroxypropionic acid,R-andS-3-amino- and 3-hydroxyisobutyric acids andS-2-(hydroxymethyl)butyric acid is probably due to deficient activities of malonic, methylmalonic and ethylmalonic semialdehyde dehydrogenases. These dehydrogenation reactions could be mediated by one enzyme, or by enzymes with a common subunit, and bothR- andS-methylmalonic semialdehydes seem to be equally affected. The patient is now aged 4 years and has developed normally. He has a persistent gross hypermethioninaemia which is probably unrelated to the other biochemical abnormalities.
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Bannerjee, D., Sanders, L. E. and Sokatch, J. R. Properties of purified methylmalonate semialdehyde dehydrogenase ofPseusomonas aeruginosa.J. Biol. Chem. 245 (1970) 1828–1835
Baretz, B. H. and Tanaka, K. Metabolism in ratsin vivo of isobutyrates labeled with stable isotopes at various positions. Identification of propionate as an obligate intermediate.J. Biol. Chem. 253 (1978) 4203–4213
Baretz, B. H., Lollo, C. P. and Tanaka, K. Metabolism in ratsin vivo ofRS-2-methylbutyrate andn-butyrate labeled with stable isotopes at various positions.J. Biol. Chem. 254 (1979) 3468–3478
Congden, P. J., Haigh, D., Smith, R., Green, A. and Pollitt, R. J. Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.J. Inher. Metab. Dis. 4 (1981) 79–80
Gaull, G. E., Bender, A. N., Vulovic, D., Tallan, H. H. and Schaffner, F. Methioninemia and myopathy: A new disorder.Ann. Neurol. 9 (1981) 423–432
van Gennip, A. H., Kamerling, J. P., de Bree, P. K. and Wadman, S. K. Linear relationship between theR- andS-enantiomers of β-aminoisobutyric acid in human urine.Clin. Chim. Acta 116 (1981) 261–267
Goodhue, C. T. and Schaeffer, J. R. Preparation ofL(+)β-hydroxyisobutyric acid by bacterial oxidation of isobutyric acid.Biotechnol. Bioengng 13 (1971) 203–214
Kakimoto, Y., Kanazawa, A., Taniguchi, K. and Sano, I. β-Aminoisobutyrate-α-ketoglutarate transaminase in relation to β-aminoisobutyric aciduria.Biochim. Biophys. Acta 156 (1968) 374–380
Kamerling, J. P., Gerwig, G. J., Vliegenhart, J. G. F., Duran, M., Ketting, D. and Wadman, S. K. Determination of the configuration of lactic and glyceric acids from human serum and urine by capillary gas-liquid chromatography.J. Chromatogr. 143 (1977) 117–123
Kupiecki, F. P. and Coon, M. J. Methylmalonic semialdehyde.Biochem. Prep. 7 (1960) 69–71
Landaas, S. and Solem, E. High excretion of β-aminoisobutyric acid in patients with ketoacidosis.Scand. J. Clin. Lab. Invest. 43 (1983) 95–97
Namer, O. A., Tjoa, S. S., Scriver, C. R. and Klassen, G. A. Demonstration of a new mammalian isoleucine catabolic pathway yielding anR series of metabolites.Biochem. J. 160 (1976) 417–426
Pollack, M. A. Growth effects of α-methyl homologues of pantothenic acid and β-alanine.J. Am. Chem. Soc. 65 (1943) 1335–1339
Robinson, W. G., Nagle, R., Bachhawat, B. K., Kupieki, F. P. and Coon, M. J. Coenzyme A thiol esters of isobutyric, methacrylic and β-hydroxyisobutyric acids as intermediates in the enzymatic degradation of valine.J. Biol. Chem. 224 (1957) 1–11
Scriver, C. R., Pueschel, S. and Davies, E. Hyper-β-alaninemia associated with β-aminoaciduria and γ-aminobutyric-aciduria, somnolence and seizures.N. Engl. J. Med. 274 (1966) 636–643
Solem, E., Agarwal, D. P. and Goedde, H. W. The determination of β-aminoisobutyric acid in human serum by ion-exchange chromatography.Clin. Chim. Acta 59 (1975) 203–207
Solem, E., Jellum, E. and Eldjarn, L. The absolute configuration of β-aminoisobutyric acid in human serum and urine.Clin. Chim. Acta 50 (1974) 393–403
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
Taniguchi, K., Tsujio, T. and Kakimoto, Y. Deficiency ofd-β-aminoisobutyrate pyruvate aminotransferase in the liver of genetic high excretors ofd-β-aminoisobutyrate.Biochem. Biophys. Acta 279 (1972) 475–480
Yamada, E. W. and Jakoby, W. B. Aldehyde oxidation. V. Direct conversion of malonic semialdehyde to acetylcoenzyme A.J. Biol. Chem. 235 (1960) 589–594
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Pollitt, R.J., Green, A. & Smith, R. Excessive excretion of β-alanine and of 3-hydroxypropionic,R- andS-3-aminoisobutyric,R- andS-3-hydroxyisobutyric andS-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. J Inherit Metab Dis 8, 75–79 (1985). https://doi.org/10.1007/BF01801669
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DOI: https://doi.org/10.1007/BF01801669