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Logo of jcinvestThe Journal of Clinical Investigation
 
J Clin Invest. 1972 March; 51(3): 493–498.
PMCID: PMC302154

Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency. A CAUSE FOR KETOACIDOSIS IN INFANCY

Abstract

To explain the cause of a unique form of severe and intermittent ketoacidosis in an infant who expired after 6 months of life, tissue culture fibroblasts and post mortem tissue were examined for enzyme activities that catalyze glucose and ketoacid oxidation. No measurable succinyl-CoA: 3-ketoacid CoA-transferase (CoA-transferase) activity could be detected in homogenates of the post mortem brain, muscle and kidney tissue, or in the cultured skin fibroblasts. Since seven other enzyme activities involving both glycolysis and ketone body oxidation were present in these same tissues, it was reasonable to conclude that the observed absence of CoA-transferase activity was not an artifact of homogenate preparation. It was concluded that the absence of CoA-transferase activity resulted in a loss of intracellular homeostasis leading to ketoacidosis. In addition, the absence of this enzyme appears to be a reasonable explanation for the alteration in glucose metabolism that was previously reported in fibroblasts from this patient.

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Selected References

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  • CHILDS B, NYHAN WL, BORDEN M, BARD L, COOKE RE. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics. 1961 Apr;27:522–538. [PubMed]
  • Hsia YE, Scully KJ, Rosenberg LE. Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia". J Clin Invest. 1971 Jan;50(1):127–130. [PMC free article] [PubMed]
  • Oberholzer VG, Levin B, Burgess EA, Young WF. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child. 1967 Oct;42(225):492–504. [PMC free article] [PubMed]
  • Baker L, Winegrad AI. Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity. Lancet. 1970 Jul 4;2(7662):13–16. [PubMed]
  • Haworth JC, Ford JD, Younoszai MK. Familial chronic acidosis due to an error in lactate and pyruvate metabolism. Can Med Assoc J. 1967 Sep 23;97(13):773–779. [PMC free article] [PubMed]
  • Tildon JT, Cone AL, Cornblath M. Coenzyme A transferase activity in rat brain. Biochem Biophys Res Commun. 1971 Apr 2;43(1):225–231. [PubMed]
  • Williamson DH, Bates MW, Page MA, Krebs HA. Activities of enzymes involved in acetoacetate utilization in adult mammalian tissues. Biochem J. 1971 Jan;121(1):41–47. [PubMed]
  • Melichar V, Drahota Z, Hahn P. Changes in the blood levels of acetoacetate and ketone bodies in newborn infants. Biol Neonat. 1965;8(5):348–352. [PubMed]
  • Ito T, Quastel JH. Acetoacetate metabolism in infant and adult rat brain in vitro. Biochem J. 1970 Feb;116(4):641–655. [PubMed]
  • Klee CB, Sokoloff L. Changes in D(--)-beta-hydroxybutyric dehydrogenase activity during brain maturation in the rat. J Biol Chem. 1967 Sep 10;242(17):3880–3883. [PubMed]
  • Hawkins RA, Williamson DH, Krebs HA. Ketone-body utilization by adult and suckling rat brain in vivo. Biochem J. 1971 Mar;122(1):13–18. [PubMed]
  • Page MA, Krebs HA, Williamson DH. Activities of enzymes of ketone-body utilization in brain and other tissues of suckling rats. Biochem J. 1971 Jan;121(1):49–53. [PubMed]
  • Cornblath M, Gingell RL, Fleming GA, Tildon JT, Leffler AT, Wapnir RA. A new syndrome of ketoacidosis in infancy. J Pediatr. 1971 Sep;79(3):413–418. [PubMed]
  • Williamson DH, Bates MW, Krebs HA. Activity and intracellular distribution of enzymes of ketone-body metabolism in rat liver. Biochem J. 1968 Jul;108(3):353–361. [PubMed]
  • LEHNINGER AL, SUDDUTH HC, WISE JB. D-beta-Hydroxybutyric dehydrogenase of muitochondria. J Biol Chem. 1960 Aug;235:2450–2455. [PubMed]
  • LOWRY OH, ROSEBROUGH NJ, FARR AL, RANDALL RJ. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed]
  • Metcoff J, Frenk S, Yoshida T, Pinedo RT, Kaiser E, Hansen JD. Cell composition and metabolism in Kwashiorkor. (Severe protein-calorie malnutrition in children). Medicine (Baltimore) 1966 Sep;45(5):365–390. [PubMed]

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