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    Recurrent ketoacidosis: Is it a ketone metabolism disorder?
    (Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2018) Canda, Ebru; Yazici, Havva; Esra, E. R.; Kalkan Ucar, Sema; Gemperle-Britschgi, Corinne; Habif, Sara; Onay, Huseyin; Sass, Jorn Oliver; Coker, Mahmut
    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. Methods: Patients who were diagnosed with ketone metabolism disorders were examined retrospectively. Results: The patients had HL deficiency (n=4), MAT deficiency (n=3) and SCOT deficiency (n=2). The median age of the patients was 5 years (6 months-15.5 years) and the mean age of the first metabolic decompensation episode was 7.7 months (22 days19 months). A patient with MAT deficiency was asymptomatic and diagnosed by family screening. Two patient; developed severe neurological deficit like spastic tetraparesis. It was seen that decompensation attacks developed after poor feeding, vomiting and infections such as gastroenteritis. Conclusion: in case of unexplained metabolic acidosis attacks, ketone metabolism disorders should be kept in mind. Acute decompensation may occur at different ages, and its clinical severity may be variable. Early diagnosis and appropriate treatment are very important in terms of mortality and morbidity.
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    Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures
    (Galenos Yayincilik, 2016) Kose, Melis Demir; Canda, Ebru; Kagnici, Mehtap; Isguder, Rana; Unalp, Aycan; Ucar, Sema Kalkan; Bahr, Luzy; Britschgi, Corinne; Sass, Jorn Oliver; Coker, Mahmut
    Deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2 (methylacetoacetyl-coenzyme A thiolase, MAT) or beta-ketothiolase is a rare autosomal recessive disorder that is characterized by ketoacidosis episodes. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of mutations in both alleles of the ACAT1 gene and comprises characteristic abnormalities in urinary organic acids and blood or plasma acylcarnitine profiles. In this study, we present two sibling cases with quite different clinical properties.