Abstract
Two sisters with isovaleric acidaemia are described. Both had multiple attacks of acetonaemic vomiting, sometimes leading to subcoma. Despite this they showed a completely normal mental development. Biochemical studies, clinical follow-up and attempts at treatment are presented.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Ando, T., Klingberg, W. G., Ward, A. N., Rasmussen, K., Nyhan, W. L.: Isovaleric acidemia presenting with altered metabolism of glycine. Pediat. Res. 5, 478–486 (1971)
Bieber, L. L., Choi, Y. R.: Isolation and identification of short-chain acylcarnitines from beef heart: Possible role for carnitine in branched-chain amino acid metabolism. Proc. Natl. Acad. Sci. (USA) 74, 2795–2799 (1977)
Guibaud, P., Divry, P., Dubois, Y., Larbre, F.: Une observation d'acidémie isovalérique. Arch. Franç. Péd. 30, 633–645 (1973)
Kamerling, J. P., Duran, M., Bruinvis, L., Ketting, D., Wadman, S. K., de Groot, C. J., Hommes, F. A.: (2-ethoxyethoxy)acetic acid: an unusual compound found in the gas chromatographic analysis of urinary organic acids. Clin. Chim. Acta 77, 397–405, (1977)
Krieger, I., Tanaka, K.: Therapeutic effects of glycine in isovaleric acidemia. Pediat. Res. 10, 25–29 (1976)
Levy, H. L., Erickson, A. M., Lott, I. T., Kurtz, D. J.: Isovaleric acidemia: results of family study and dietary treatment. Pediatrics 52, 83–94 (1973)
Malan, C., Neethling, A. C., Shanley, B. C., Gompertz, D., Bartlett, K., Schraader, E. B.: Isovaleric acidemia in two South African children. SA Med. J. 52, 980–983 (1977)
Newman, C. G. H., Wilson, B. D. R., Callaghan, P., Young, L.: Neonatal death associated with isovaleric acidemia. Lancet 1967II, 439–441
Pettersen, J. E., Jellum, E., Eldjarn, L.: The occurrence of adipic and suberic acid in the urine of ketotic patients. Clin. Chim. Acta 38, 17–24 (1972)
Przyrembel, H., Bremer, H. J., Duran, M., Bruinvis, L., Ketting, D., Wadman, S. K., Baumgartner, R., Irle, U., Bachmann, C.: Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels. Europ. J. Pediat. 130, 1–14 (1979)
Saudubray, J.-M., Sorin, M., Depondt, E., Herouin, C., Charpentier, C., Pousset, J. L.: Acidémie isovalérique. Etude et traitement chez trois frères. Arch. Franç. Péd. 33, 795–808 (1976)
Spirer, Z., Swirsky-Fein, S., Zakut, V., Legum, C., Bogar, N., Charles, R., Gil-Av, E.: Acute neonatal isovaleric acidemia. A report of two cases. Isr. J. Med. Sci. 11, 1005–1010 (1975)
Tanaka, K., Budd, M. A., Efron, M. L., Isselbacher, K. J.: Isovaleric acidemia: A new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. (USA) 56, 236–242 (1966)
Tanaka, K., Mandell, R., Shih, V. E.: Metabolism of 1-14C and 2-14C leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects. J. Clin. Invest. 58, 164–172 (1976)
Tanaka, K., Orr, J. C., Isselbacher, K. J.: Identification of β-hydroxyisovaleric acid in the urine of a patient with isovaleric acidemia. Biochim. Biophys. Acta 152, 638–641 (1968)
Winokur, P. A., Vashistha, K., Seshamani, R.: Isovaleric acidemia: a case report. Pediatrics 61, 902–903 (1978)
Author information
Authors and Affiliations
Additional information
With support of ‘Het Praeventiefonds’
Rights and permissions
About this article
Cite this article
Duran, M., van Sprang, F.J., Drewes, J.G. et al. Two sistes with isovaleric acidaemia, multiple attacks of ketoacidosis and normal development. Eur J Pediatr 131, 205–211 (1979). https://doi.org/10.1007/BF00538944
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00538944