Succinyl-CoA:3-oxoacid coenzyme a transferase (SCOT) deficiency

• Verfasst von: Grünert, Sarah [VerfasserIn]
• Verfasst von: Foster, William [VerfasserIn]
• Verfasst von: Schumann, Anke [VerfasserIn]
• Verfasst von: Lund, Allan [VerfasserIn]
• Verfasst von: Pontes, Christina [VerfasserIn]
• Verfasst von: Roloff, Sylvia [VerfasserIn]
• Verfasst von: Weinhold, Natalie [VerfasserIn]
• Verfasst von: Yue, Wyatt W. [VerfasserIn]
• Verfasst von: AlAsmari, Ali [VerfasserIn]
• Verfasst von: Obaid, Osama A. [VerfasserIn]
• Verfasst von: Faqeih, Eissa Ali [VerfasserIn]
• Verfasst von: Stübbe, Lisa [VerfasserIn]
• Verfasst von: Yamamoto, Raina [VerfasserIn]
• Verfasst von: Gemperle-Britschgi, Corinne [VerfasserIn]
• Verfasst von: Walter, Melanie [VerfasserIn]
• Verfasst von: Spiekerkoetter, Ute [VerfasserIn]
• Verfasst von: Mackinnon, Sabrina [VerfasserIn]
• Verfasst von: Sass, Jörn Oliver [VerfasserIn]
• Titel: Succinyl-CoA:3-oxoacid coenzyme a transferase (SCOT) deficiency
• Titelzusatz: a rare and potentially fatal metabolic disease
• Verf.angabe: Sarah C. Grünert, William Foster, Anke Schumann, Allan Lund, Christina Pontes, Sylvia Roloff, Natalie Weinhold, Wyatt W. Yue, Ali AlAsmari, Osama A. Obaid, Eissa Ali Faqeih, Lisa Stübbe, Raina Yamamoto, Corinne Gemperle-Britschgi, Melanie Walter, Ute Spiekerkoetter, Sabrina Mackinnon, Jörn Oliver Sass
• E-Jahr: 2021
• Jahr: 14 February 2021
• Umfang: 8 S.
• Fussnoten: Gesehen am 11.05.2021
• Titel Quelle: Enthalten in: Biochimie
• Ort Quelle: Paris [u.a.] : Elsevier, 1971
• Jahr Quelle: 2021
• Band/Heft Quelle: 183(2021) vom: Apr., Seite 55-62
• DOI: doi:10.1016/j.biochi.2021.02.003
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Inborn error of metabolism
• Sach-SW: Ketoacidosis
• Sach-SW: Ketolysis
• Sach-SW: Ketone body utilization
• Sach-SW: Metabolic acidosis
• K10plus-PPN: 1757619208

Abstract

Succinyl-CoA:3-oxoacid coenzyme A transferase deficiency (SCOTD) is a rare autosomal recessive disorder of ketone body utilization caused by mutations in OXCT1. We performed a systematic literature search and evaluated clinical, biochemical and genetic data on 34 previously published and 10 novel patients with SCOTD. Structural mapping and in silico analysis of protein variants is also presented. All patients presented with severe ketoacidotic episodes. Age at first symptoms ranged from 36 h to 3 years (median 7 months). About 70% of patients manifested in the first year of life, approximately one quarter already within the neonatal period. Two patients died, while the remainder (95%) were alive at the time of the report. Almost all the surviving patients (92%) showed normal psychomotor development and no neurologic abnormalities. A total of 29 missense mutations are reported. Analysis of the published crystal structure of the human SCOT enzyme, paired with both sequence-based and structure-based methods to predict variant pathogenicity, provides insight into the biochemical consequences of the reported variants. Pathogenic variants cluster in SCOT protein regions that affect certain structures of the protein. The described pathogenic variants can be viewed in an interactive map of the SCOT protein at https://michelanglo.sgc.ox.ac.uk/r/oxct. This comprehensive data analysis provides a systematic overview of all cases of SCOTD published to date. Although SCOTD is a rather benign disorder with often favourable outcome, metabolic crises can be life-threatening or even fatal. As the diagnosis can only be made by enzyme studies or mutation analyses, SCOTD may be underdiagnosed.