Abstract
Two unrelated Canadian Indian infants presented with metabolic acidosis. Lactate, pyruvate, glutamic acid, proline and alanine were greatly elevated in plasma. Urinary excretion of α-ketoglutarate and pyruvate was increased. Pyruvate carboxylase activity was very low in skin fibroblasts and liver. Phosphoenolpyruvate carboxykinase was low in liver. Both infants were unresponsive to several enzyme cofactors, including biotin. Both survive at age 2 years with severe mental retardation.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Atkin, B. M., Buist, N. R. M., Utter, M. F., Leiter, A. B. and Banker, B. Q. Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease.Pediatr. Res. 13 (1979a) 109–116
Atkin, B. M., Utter, M. F. and Weinberg, M. B. Pyruvate carboxylase and phosphoenolpyruvate carboxykinase activity in leucocytes and fibroblasts from a patient with pyruvate carboxylase deficiency.Pediatr. Res. 13 (1979b) 38–43
Ballard, F. J. and Hanson, R. N. Phosphoenolpyruvate carboxykinase and pyruvate carboxylase in developing rat liver.Biochem. J. 104 (1967) 866–871
Hommes, F. A., Polman, H. A. and Reerink, J. C. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis.Arch. Dis. Child. 43 (1968) 423–426
Hommes, F. A., Schrijver, J. and Dias, T. Pyruvate carboxylase deficiency: studies on patients and an animal model system. In Burman, D., Holton, J. B. and Pennock, C. A. (eds.)Inherited Disorders of Carbohydrate Metabolism. MTP, Lancaster, 1980, pp. 269–286
Israels, S., Haworth, J. C., Dunn, H. G. and Applegarth, D. A. Lactic acidosis in childhood.Adv. Pediatr. 22 (1976) 267–303
Saudubray, J. M., Marsac, C., Charpentier, C., Cathelineau, L., Leaud, M. B. and Leroux, J. P. Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.Acta Paediatr. Scand. 65 (1976) 717–724
Schmidt, E. Glutamate dehydrogenase. In Bergemeyer, H. U. (ed.)Methods in Enzymatic Analysis. Academic Press, New York, 1969, p. 651
Taylor, S. I., Mukherjee, C. and Jungas, R. L. Studies on the mechanism of activation of adipose tissue pyruvate dehydrogenase by insulin.J. Biol. Chem. 248 (1973) 73–81
Van Biervliet, J. P. G. M., Bruinvis, L., van der Heiden, C., Ketting, D., Wadman, S. K., Willemse, J. L. and Monnens, L. A. H. Report of a patient with severe chronic lactic acidaemia and pyruvate carboxylase deficiency.Devel. Med. Child. Neurol. 19 (1977) 392–401
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Haworth, J.C., Robinson, B.H. & Perry, T.L. Lactic acidosis due to pyruvate carboxylase deficiency. J Inherit Metab Dis 4, 57–58 (1981). https://doi.org/10.1007/BF02263589
Issue Date:
DOI: https://doi.org/10.1007/BF02263589