Journal of Inherited Metabolic Disease

, Volume 10, Issue 4, pp 405–406 | Cite as

β-Ketothiolase deficiency with favourable evolution

  • G. Sabetta
  • C. Bachmann
  • O. Giardini
  • M. Castro
  • M. Gambarara
  • C. D. Vici
  • K. Bartlett
  • B. Middleton
Case Report

Keywords

Public Health Internal Medicine Metabolic Disease Favourable Evolution 

References

  1. Bachmann, C., Buehlmann, R. and Colombo, J. P. Organic acids in urine: sample preparation for GC/MS.J. Inher. Metab. Dis. 7 Suppl. 2 (1984) 126Google Scholar
  2. Daum, R. S., Scriver, C. R., Mamer, O. A., Delvin, E., Lamm, P. and Goldman, H. An inherited disorder of isoleucine catabolism causing accumulation of α-methyl-β-hydroxybutyrate, and intermittent metabolic acidosis.Pediatr. Res. 7 (1973). 149–160Google Scholar
  3. Middleton, B. and Bartlett, K. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.Clin. Chim. Acta 128 (1983) 291–305Google Scholar

Copyright information

© SSIEM and MTP Press Limited 1987

Authors and Affiliations

  • G. Sabetta
    • 1
  • C. Bachmann
    • 2
  • O. Giardini
    • 3
  • M. Castro
    • 3
  • M. Gambarara
    • 2
  • C. D. Vici
    • 3
  • K. Bartlett
    • 4
  • B. Middleton
    • 5
  1. 1.Servizio di Patologia Metabolica, Ospedale Pediatrico Bambino Gesu Istituto per la Ricerca ScientificaRomaItaly
  2. 2.Department of Clinical ChemistryUniversity of Bern, InselspitalBernSwitzerland
  3. 3.Clinica PediatricaUniversità ‘La Sapienza’RomaItaly
  4. 4.Department of Child Health Clinical Biochemistry, Royal Victoria InfirmaryUniversity of Newcastle upon TyneNewcastle upon TyneUK
  5. 5.Department of BiochemistryUniversity of Nottingham, Medical SchoolNottinghamUK

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