Summary
Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.J. Inher. Metab. Dis. 9, 225–233.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Barritt, G. J., Zander, G. L. and Utter, M. F. The regulation of pyruvate carboxylase activity in gluconeogenic tissues. In: Hanson, R. W. and Mehlman, M.A. (eds.)Gluconeogenesis: Its Regulation in Mammalian Species, Wiley, New York, 1976, p. 31
Bier, D. M., Leake, R. D., Haymond, M. W., Arnold, K. J., Gruenke, L. D., Sperling, M. A. and Kipnis, D. M. Measurement of ‘true’ glucose production rates in infancy and childhood with 6,6-dideuteroglucose.Diabetes 26 (1977) 1016–1023
Boyum, A. Separation of leucocytes from blood and bone marrow.Scand. J. Clin. Lab. Invest. 21, Suppl. 97 (1968) 77–89
Cathelineau, L., Briand, P., Ogier, H., Charpentier, C., Coude, F. X. and Saudubray, J. M. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia.J. Pediatr. 99 (1981) 279–280
Chalmers, R. A., Stacey, T. E., Tracey, B. M., de Sousa, C., Roe, C. R., Millington, D. S. and Hoppel, C. L.l-carnitine insufficiency in disorders of organic acid metabolism: response tol-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methyl-glutaric aciduria.J. Inher. Metab. Dis. 7, Suppl. 2 (1984) 109–110
Cohen, J. J. and Barac-Nieto, M. Renal metabolism of substrates in relation to renal function. In: Orloff, J., Berliner, R. W. and Geiger, S. R. (eds.)Handbook of Physiology, Section 8: Renal Physiology, Am. Physiol. Society, Washington, DC, 1973, p. 909
Dietze, G., Wicklmayr, M. and Mehnert, H. On the key role of ketogenesis for the regulation of glucose homeostasis during fasting: intrahepatic control, ketone levels and peripheral pyruvate oxidation. In: Soeling, H. D. and Seufert, C. D. (eds.)Biochemical and Clinical Aspects of Ketone Body Metabolism, Thieme, Stuttgart, 1978, pp. 213–225
Faull, K., Bolton, P., Halpern, B., Hammond, J., Danks, D. M., Haehnel, R., Wilkinson, S. P., Wysocki, S. J. and Masters, P. L. Patient with defect in leucine metabolism.N. Engl. J. Med. 294 (1976), 1013
Felig, P., Sherwin, R. and Palaiologos, G. Ketone utilization and ketone-amino acid interactions in starvation and diabetes. In: Soeling, H. D. and Seufert, C. D. (eds.)Biochemical and Clinical Aspects of Ketone Body Metabolism, Thieme, Stuttgart, 1978, pp. 166–173
Francois, B., Bachmann, C. and Schutgens, R. B. H. Glucose metabolism in a child with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.J. Inher. Metab. Dis. 4 (1981) 163–164
Greene, C. L., Cann, H. M., Robinson, B. H., Gibson, K. M., Sweetman, L., Holm, J. and Nyhan, W. L. 3-hydroxy-3-methylglutaric aciduria.J. Neurogenet. 1 (1984) 165–173
Kerr, D. S., Stevens, M. C. G. and Picou, D. I. M. Estimation of fasting glucose flux in malnourished and hypoglycemic children by constant infusion of U-13C-glucose. In: Klein, E. R. and Klein, P. D. (eds.)Proceedings of the 2nd International Conference on Stable Isotopes, Oak, Illinois, 1975, pp. 336–343
Leonard, J. V., Middleton, B. and Seakins, J. W. T. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.Pediatr. Res. 21 (1987) 211–213
Mehler, A. H. Amino acid metabolism. 1. General pathways. In: Devlin, T. M. (ed.)Textbook of Biochemistry with Clinical Correlations, Wiley, New York, 1986, p. 449
Robinson, B. H., Oei, J., Sherwood, W. G., Slyper, A. H., Heininger, J. and Mamer, O. A. Hydroxymethylglutaryl CoA lyase deficiency: features resembling Reye syndrome.Neurology 30 (1980) 714–718
Settergren, G., Lindblad, B. S. and Persson, B. Cerebral blood flow and exchange of oxygen, glucose, ketone bodies, lactate, pyruvate and amino acids in infants.Acta Paediatr. Scand. 65 (1976) 343–353
Sovik, O., Sweetman, L., Gibson, K. M. and Nyhan, W. L. Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.Am. J. Hum. Genet. 36 (1984) 791–801
Stacey, T. E., de Sousa, C., Tracey, B. M., Whitelaw, A., Mistry, J., Timbrell, P. and Chalmers, R. A. Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management.Eur. J. Pediatr. 144 (1985) 177–181
Walter, J. H., Clayton, P. T. and Leonard, J. V. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.J. Inher. Metab. Dis. 9 (1986) 287–288
Weyler, W., Sweetman, L., Maggio, D. C. and Nyhan, W. L. Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuria.Clin. Chim. Acta 76 (1977) 321–328
Wysocki, S. J. and Haehnel, R. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: a review.J. Inher. Metab. Dis. 9 (1986) 225–233
Zoghbi, H. Y., Spence, J. E., Beaudet, A. L., O'Brien, W. E., Goodman, C. J. and Gibson, K. M. Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Ann. Neurol. 20 (1986) 367–369
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Gibson, K.M., Breuer, J., Kaiser, K. et al. 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Report of five new patients. J Inherit Metab Dis 11, 76–87 (1988). https://doi.org/10.1007/BF01800058
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01800058