Recurrent ketoacidosis: Is it a ketone metabolism disorder?

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dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorEsra, E. R.
dc.contributor.authorKalkan Ucar, Sema
dc.contributor.authorGemperle-Britschgi, Corinne
dc.contributor.authorHabif, Sara
dc.contributor.authorOnay, Huseyin
dc.contributor.authorSass, Jorn Oliver
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T10:45:28Z
dc.date.available2019-10-27T10:45:28Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: 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.en_US
dc.identifier.doi10.5222/buchd.2018.115
dc.identifier.endpage121en_US
dc.identifier.issn2146-2372
dc.identifier.issn1309-9566
dc.identifier.issn2146-2372en_US
dc.identifier.issn1309-9566en_US
dc.identifier.issue2en_US
dc.identifier.startpage115en_US
dc.identifier.urihttps://doi.org/10.5222/buchd.2018.115
dc.identifier.urihttps://hdl.handle.net/11454/31152
dc.identifier.volume8en_US
dc.identifier.wosWOS:000440521200006en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isotren_US
dc.publisherDr Behcet Uz Cocuk Hastaliklari Ve Cerrahisien_US
dc.relation.ispartofIzmir Dr Behcet Uz Cocuk Hastanesi Dergisien_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectKetoacidosisen_US
dc.subjectketogenesis defectsen_US
dc.subjectketolysis defecten_US
dc.titleRecurrent ketoacidosis: Is it a ketone metabolism disorder?en_US
dc.typeArticleen_US

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