Two Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Pictures

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dc.contributor.authorKose, Melis Demir
dc.contributor.authorCanda, Ebru
dc.contributor.authorKagnici, Mehtap
dc.contributor.authorIsguder, Rana
dc.contributor.authorUnalp, Aycan
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorBahr, Luzy
dc.contributor.authorBritschgi, Corinne
dc.contributor.authorSass, Jorn Oliver
dc.contributor.authorCoker, Mahmut
dc.date.accessioned2019-10-27T23:09:47Z
dc.date.available2019-10-27T23:09:47Z
dc.date.issued2016
dc.departmentEge Üniversitesien_US
dc.description.abstractDeficiency 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.en_US
dc.identifier.doi10.4274/jpr.25338
dc.identifier.endpage116en_US
dc.identifier.issn2147-9445
dc.identifier.issn2147-9445en_US
dc.identifier.issue2en_US
dc.identifier.startpage113en_US
dc.identifier.urihttps://doi.org/10.4274/jpr.25338
dc.identifier.urihttps://hdl.handle.net/11454/52743
dc.identifier.volume3en_US
dc.identifier.wosWOS:000406928300010en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Pediatric Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectACAT1 geneen_US
dc.subjectbeta-ketothiolase deficiencyen_US
dc.subjectencephalopathyen_US
dc.subjecthyperammonemiaen_US
dc.subjectlactic acidosisen_US
dc.titleTwo Siblings with Beta-Ketothiolase Deficiency: One Genetic Defect Two Different Picturesen_US
dc.typeArticleen_US

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