Journal of Inherited Metabolic Disease

, Volume 15, Issue 3, pp 371–373 | Cite as

A new case of succinyl-CoA: Acetoacetate transferase deficiency

  • C. Pérez-Cerdá
  • B. Merinero
  • P. Sanz
  • A. Jiménez
  • C. Hernández
  • M. J. Garcia
  • M. Ugarte
Short Communication

Keywords

Acetoacetate Ketotic Hypoglycemia Transferase Deficiency Ketoacidotic Episode Isoleucine Degradation Pathway 

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References

  1. Leonard JV, Middleton B, Seakins JWT (1987) Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.Pediatr Res 21: 211–213.PubMedGoogle Scholar
  2. Middleton B (1973) The oxoacyl-CoA thiolases of animal tissues.Biochem J 132: 717–780.PubMedGoogle Scholar
  3. Middleton B, Bartlett K, Romanos A et al (1986) 3-Ketothiolase deficiency.Eur J Pediatr 144: 586–589.PubMedCrossRefGoogle Scholar
  4. Middleton B, Day R, Lombes A, Saudubray JM (1987) Infantile ketoacidosis associated with decreased activity of succinyl-CoA: 3-ketoacid CoA transferase.J Inher Metab Dis 10 (suppl 2): 273–275.CrossRefGoogle Scholar
  5. Saudubray JM, Specola N, Middleton B et al (1987) Hyperketotic states due to inherited defects of ketolysis.Enzyme 38: 80–90.PubMedGoogle Scholar
  6. Spence MW, Murphy MG, Cook HW, Ripley BA, Embil JA (1973) Succinyl CoA: 3-ketoacid CoA transferase deficiency: a new phenotype.Pediatr Res 7: 394.Google Scholar
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  8. Tildon JT, Cornblath M (1972) Succinyl-CoA: 3-ketoacid CoA-transferase deficiency: a cause for ketoacidosis in infancy.J Clin Invest 51: 493–498PubMedGoogle Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1992

Authors and Affiliations

  • C. Pérez-Cerdá
    • 1
  • B. Merinero
    • 1
  • P. Sanz
    • 1
  • A. Jiménez
    • 1
  • C. Hernández
    • 1
  • M. J. Garcia
    • 1
  • M. Ugarte
    • 1
  1. 1.Centro de Diagnóstico de Enfermedades Moleculares, Facultad de CienciasUniversidad AutónomaMadridSpain

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