Recurrent ketoacidosis: Is it a ketone metabolism disorder?
Makaleler > Tam Makale · 2018
Yazarlar: Ebru CANDA, Havva YAZICI, E. R. Esra, Sema KALKAN UÇAR, Corinne GEMPERLE-BRİTSCHGİ, Sara HABİF, HÜSEYİN ONAY, Jorn Oliver Sass, Mahmut ÇOKER
IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 8, ss 115-121
Özet
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.