Abstract
Isovaleric acidaemia (McKusick 24350) is a disorder of leucine catabolism characterized clinically by episodes of acidosis and coma with consequent mild psychomotor retardation. Biochemically, the disorder is caused by deficient activity of isovaleryl-CoA dehydrogenase associated with accumulation of isovaleryl-CoA and its metabolites, isovalerylglycine and 3-hydroxyisovalerate.
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Chalmers, R. A., Roe, C. R., Tracey, B. M., Stacey, T., Hoppel, C. L. and Millington, D. S. Secondary carnitine insufficiency in disorders of organic acid metabolism: modulation of acyl CoA/CoA ratios by L-carnitine in vivo. Biochem. Soc. Trans. 11 (1983)724–725
Dubiel, B., Dabrowski, C., Wetts, R. and Tanaka, K. Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. J. Clin. Invest. 72 (1983) 1543–1552
Kreiger, I. and Tanaka, K. Therapeutic effects of glycine in isovaleric acidemia. Pediatr. Res. 10 (1976) 25–29
Roe, C. R., Hoppel, C. L., Stacey, T. E., Chalmers, R. A., Tracey, B. M. and Millington, D. S. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch. Dis. Child. 58 (1983) 916–920
Truscott, R. J. W., Malegan, D., McCairns, E., Burke, D., Hicks, L., Sims, P., Halpern, B., Tanaka, K., Sweetman, L., Nyhan, W. L., Hammond, J., Bumack, C., Haan, E. A. and Danks, D. M. New metabolites in isovaleric acidemia. Clin. Chim. Acta 110 (1981) 187–203
Wysocki, S. J., French, N. P. and Grauaug, A. Organic aciduria associated with isovaleric aciduria. Clin. Chem. 29 (1983) 1002–1003
Yudkoff, M., Cohn, R. M., Puschak, R., Rothman, R. and Segal, S. Glycine therapy in isovaleric acidemia. J. Pediatr. 92 (1978) 813–817
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Chalmers, R.A., de Sousa, C., Tracey, B.M., Stacey, T.E., Weaver, C., Bradley, D. (1985). L-Carnitine and Glycine Therapy in Isovaleric Acidaemia. In: Addison, G.M., Bartlett, K., Harkness, R.A., Pollitt, R.J. (eds) Inherited Disorders of Vitamins and Cofactors. Springer, Dordrecht. https://doi.org/10.1007/978-94-011-8019-1_43
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DOI: https://doi.org/10.1007/978-94-011-8019-1_43
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