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dc.contributor.authorGemperle-Britschgi, Corinne
dc.contributor.authorBerg, Volker
dc.contributor.authorÇOKER, MAHMUT
dc.contributor.authorDas, Anibh M.
dc.contributor.authorDerks, Terry G. J.
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorKonstantopoulou, Vassiliki
dc.contributor.authorKorenke, G. Christoph
dc.contributor.authorLotz-Havla, Amelie Sophia
dc.contributor.authorSchlune, Andrea
dc.contributor.authorStaufner, Christian
dc.contributor.authorIran, Christel
dc.contributor.authorVisser, Gepke
dc.contributor.authorSchwab, Karl Otfried
dc.contributor.authorFukao, Toshiyuki
dc.contributor.authorSass, Joern Oliver
dc.contributor.authorBalci, Mehmet Cihan
dc.contributor.authorGokcay, Gülden Fatma
dc.contributor.authorDemirkol, Mulbeccel
dc.contributor.authorGruenert, Sarah Catharina
dc.contributor.authorSchmitt, Robert Niklas
dc.contributor.authorSchlatter, Sonja Marina
dc.date.accessioned2021-03-04T08:05:20Z
dc.date.available2021-03-04T08:05:20Z
dc.identifier.citationGruenert S. C. , Schmitt R. N. , Schlatter S. M. , Gemperle-Britschgi C., Balci M. C. , Berg V., ÇOKER M., Das A. M. , Demirkol M., Derks T. G. J. , et al., "Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.", Molecular genetics and metabolism, cilt.122, ss.67-75, 2017
dc.identifier.issn1096-7192
dc.identifier.othervv_1032021
dc.identifier.otherav_617d074a-3666-4a8f-9741-fd5ad334b795
dc.identifier.urihttp://hdl.handle.net/20.500.12627/67944
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2017.06.012
dc.description.abstract2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this disease, we have collected clinical and biochemical data as well as information on ACAT1 mutations of 32 patients from 12 metabolic centers in five countries. Patients were between 23 months and 27 years old, more than half of them were offspring of a consanguineous union. 63% of the study participants presented with a metabolic decompensation while most others were identified via newborn screening or family studies. In symptomatic patients, age at manifestation ranged between 5 months and 6.8 years. Only 7% developed a major mental disability while the vast majority was cognitively normal. More than one third of the identified mutations in ACAT1 are intronic mutations which are expected to disturb splicing. We identified several novel mutations but, in agreement with previous reports, no clear genotype-phenotype correlation could be found. Our study underlines that the prognosis in MAT deficiency is good and MAT deficient individuals may remain asymptomatic, if diagnosed early and preventive measures are applied. (C) 2017 Elsevier Inc. All rights reserved.
dc.language.isoeng
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectİç Hastalıkları
dc.subjectEndokrinoloji ve Metabolizma Hastalıkları
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectENDOKRİNOLOJİ VE METABOLİZMA
dc.titleClinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
dc.typeMakale
dc.relation.journalMolecular genetics and metabolism
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume122
dc.identifier.startpage67
dc.identifier.endpage75
dc.contributor.firstauthorID245926


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