Beta-ketothiolase deficiency brought with lethargy: Case report

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dc.contributor.authorArica, Vefik
dc.contributor.authorArica, Secil Gunher
dc.contributor.authorDag, Huseyin
dc.contributor.authorOnur, Hatice
dc.contributor.authorObut, Omer
dc.contributor.authorGulbayzar, Sayat
dc.date.accessioned2024-09-18T20:04:24Z
dc.date.available2024-09-18T20:04:24Z
dc.date.issued2011
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractBeta-ketothiolase deficiency is a rare autosonnal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.en_US
dc.identifier.doi10.1177/0960327110396533
dc.identifier.endpage1727en_US
dc.identifier.issn0960-3271
dc.identifier.issue10en_US
dc.identifier.pmid21247997en_US
dc.identifier.scopus2-s2.0-80054847809en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1724en_US
dc.identifier.urihttps://doi.org/10.1177/0960327110396533
dc.identifier.urihttps://hdl.handle.net/20.500.12483/8141
dc.identifier.volume30en_US
dc.identifier.wosWOS:000295812200036en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Ltden_US
dc.relation.ispartofHuman & Experimental Toxicologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectbeta-ketothiolase deficiencyen_US
dc.subjectketoacidosisen_US
dc.subjectcomaen_US
dc.titleBeta-ketothiolase deficiency brought with lethargy: Case reporten_US
dc.typeArticleen_US

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