Recurrent ketoacidosis: Is it a ketone metabolism disorder?


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Canda E., Yazici H., Esra E. R. , Kalkan Ucar S. , GEMPERLE-BRİTSCHGİ C., Habif S. , ...More

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.8, no.2, pp.115-121, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.5222/buchd.2018.115
  • Title of Journal : IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Page Numbers: pp.115-121

Abstract

Objective: Two defects of ketogenesis have been reported in the human so far; mitochondria) 3-hydroxy-3-methyl glutaryl CoA synthase (Mhs) and 3-hydroxymethyl-3glutaryl CoA lyase (HL) deficiencies. Defects of ketone degradation (ketolysis) can be the result of enzyme deficiency of succinyl CoA: 3 oxoacid CoA transferase (SCOT) or methylacetoacetyl CoA thiolase-beta ketothiolase (MAT). Our aim was to evaluate the clinical and laboratory findings of patients who were followed up with the diagnosis of ketone metabolism disorders.