Abstract
Human skin fibroblasts deficient in pyruvate dehydrogenase and five normal control strains were incubated with one of the following labelled substrates:dl-[1-14C]-2-amino-n-butyric acid,dl-[3-14C]-2-amino-n-butyric acid,dl-[1-14C]leucine,l-[1-14C]valine,l-[1-14C]alanine, and [1-14C]pyruvate. The rate of14CO2-production in the deficient cells was normal from 2-aminobutyrate and leucine, increased from valine, and decreased from alanine and pyruvate. These results indicated that in human skin fibroblasts the decarboxylation of 2-oxobutyrate is catalysed by an enzyme system different from the pyruvate dehydrogenase complex.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
Borud, O. and Strømme, J. H. Metabolic studies on normal and pyruvate dehydrogenase deficient cultured human fibroblasts.Scand. J. Clin. Lab. Invest. 37 (1977) 419–423
Bremer, J. Pyruvate dehydrogenase, substrate specificity and product inhibition.Eur. J. Biochem. 8 (1969) 535–540
Chalmers, R. and Watts, R. W. E. The quantitative extraction and gas-liquid chromatographic determination of organic acids in urine.Analyst 97 (1972) 958–967
Connelly, J. L., Danner, D. J. and Bowden, J. A. Branched chain α-keto acid metabolism. I. Isolation, purification, and partial characterization of bovine liver α-ketoisocaproic: α-keto-β-methylvaleric acid dehydrogenase.J. Biol. Chem. 243 (1968) 1198–1203
Dancis, J., Hutzler, J., Snyderman, S. E. and Cox, R. P. Enzyme activity in classical and variant forms of maple syrup urine disease.J. Pediatr. 81 (1972) 312–320
Dancis, J., Hutzler, J., Tada, K., Wada, Y., Morikawa, T. and Arakawa, T. Hypervalinemia: A defect in valine transamination.Pediatrics 39 (1967) 813–817
Guest, J. R. Aspects of the molecular biology of lipoamide dehydrogenase.Adv. Neurol. 21 (1978) 219–241
Kanzaki, T., Hayakawa, T., Hamada, M., Fukuyoshi, Y. and Koike, M. Mammalian α-keto acid dehydrogenase complexes.J. Biol. Chem. 244 (1969) 1183–1187
Menkes, J. H. Maple syrup disease. Isolation and identification of organic acids in the urine.Pediatrics 23 (1959) 348–353
Rhead, J. W. and Tanaka, K. Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.Proc. Natl. Acad. Sci. USA 77 (1980) 580–583
Roberts, C. M. and Sokatch, J. R. Branched chain amino acids as activators of branched chain ketoacid dehydrogenase.Biochem. Biophys. Res. Commun. 82 (1978) 828–833
Schneider, E. L. and Standbridge, E. J. A simple biochemical technique for the detection of mycoplasma contamination of cultured cells.Meth. Cell Biol. 10 (1975) 278–290
Strømme, J. H., Borud, O. and Moe, P. J. Fetal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.Pediatr. Res. 10 (1976) 60–66
Stumpf, P. K., Zarudnaya, K. and Green, D. E. Pyruvic and α-ketoglutaric oxidase of animal tissue.J. Biol. Chem. 167 (1947) 817–825
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Borud, O., Pettersen, J.E. Normal 2-aminobutyrate oxidation and increased valine oxidation in fibroblasts deficient in pyruvate dehydrogenase. J Inherit Metab Dis 5, 55–57 (1982). https://doi.org/10.1007/BF01799755
Issue Date:
DOI: https://doi.org/10.1007/BF01799755