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Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis
Abdelkreem, Elsayed; Otsuka, Hiroki; Sasai, Hideo; Aoyama, Yuka; Hori, Tomohiro; Aal, Mohamed Abd El; Mahmoud, Shaimaa; Fukao, Toshiyuki.
Afiliação
  • Abdelkreem, Elsayed; Sohag University. Faculty of Medicine. Department of Pediatrics. Sohag. EG
  • Otsuka, Hiroki; Gifu University. Graduate School of Medicine. Department of Pediatrics. Gifu. JP
  • Sasai, Hideo; Gifu University. Graduate School of Medicine. Department of Pediatrics. Gifu. JP
  • Aoyama, Yuka; Chubu University. College of Life and Health Sciences. Department of Biomedical Sciences. Kasugai. JP
  • Hori, Tomohiro; Gifu University. Graduate School of Medicine. Department of Pediatrics. Gifu. JP
  • Aal, Mohamed Abd El; Sohag University. Faculty of Medicine. Department of Pediatrics. Sohag. EG
  • Mahmoud, Shaimaa; Sohag University. Faculty of Medicine. Department of Pediatrics. Sohag. EG
  • Fukao, Toshiyuki; Gifu University. Graduate School of Medicine. Department of Pediatrics. Gifu. JP
J. inborn errors metab. screen ; 4: e150011, 2016. graf
Article em En | LILACS-Express | LILACS | ID: biblio-1090911
Biblioteca responsável: BR1.1
ABSTRACT
Abstract Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered atypical presentations have been reported and some other disorders, such as succinyl-CoA3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, can mimic the clinical and/or biochemical signs of beta-ketothiolase deficiency. A final diagnosis of beta-ketothiolase deficiency requires an enzymatic assay and/or a molecular analysis, but some caveats must be considered. Despite the reported missed cases, screening programs have successfully identified an increasing number of patients with beta-ketothiolase deficiency. Early diagnosis and management of beta-ketothiolase deficiency will enable prevention of its serious acute and chronic complications and ultimately improve the prognosis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: J. inborn errors metab. screen Assunto da revista: Medicina Cl¡nica / Patologia Ano de publicação: 2016 Tipo de documento: Article / Project document País de afiliação: Egito / Japão País de publicação: Brasil
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Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: J. inborn errors metab. screen Assunto da revista: Medicina Cl¡nica / Patologia Ano de publicação: 2016 Tipo de documento: Article / Project document País de afiliação: Egito / Japão País de publicação: Brasil