Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease

Grünert, Sarah C.; Foster, William R.; Schumann, Anke; Lund, Allan M.; Pontes, Christina; Roloff, Sylvia; Weinhold, Natalie; Yue, Wyatt W.; Alasmari, Ali; Obaid, Osama A.; Faqeih, Eissa; Stübbe, L.; Yamamoto, Raina; Gemperle-Britschgi, Corinne; Walter, Melanie; Spiekerkoetter, Ute; Mackinnon, Sabrina; Sass, Jörn Oliver

doi:10.1016/j.biochi.2021.02.003

Cited by 12 publications

(15 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is noteworthy that none of the recently reported 44 cases had remained asymptomatic. 3 However, in our cohort, two of the cases (one child and one adult) had never experienced a metabolic crisis; an observation that highlights the striking clinical variability associated with homozygosity of the p.R468C. Yet, a longer follow-up would still be needed to assess if they will develop symptoms in older age.…”

Section: Discussionmentioning

confidence: 76%

“…The biochemical profiles (pH, CO2, anion gap, electrolytes) during the crises were consistent with what has been previously reported in SCOT deficiency. 2,3 Enzyme assay for succinyl CoA-3-keto transferase was performed in cultured fibroblasts (by the Biochemical Genetics Laboratory, Oregon Health Sciences University) in one patient (case #11), which showed a level of 1.2 nmol/min/mg protein (normal 2.6-8.6) which was consistent with SCOT deficiency.…”

Section: Biochemical Analysismentioning

confidence: 99%

“…The long-term outcome is favorable with normal psychomotor development in most patients. 3 The mainstay of treatment is suppression of ketogenesis by avoidance of fasting and administration of carbohydrate. Protein-restricted diet and carnitine supplementation have been suggested as adjunct treatment, 4,5 and has been practiced in some metabolic clinics.…”

Section: Introductionmentioning

confidence: 99%

“…Protein-restricted diet and carnitine supplementation have been suggested as adjunct treatment, 4,5 and has been practiced in some metabolic clinics. 3 Sodium bicarbonate supplementation can also be considered in case of persistent metabolic acidosis.…”

Section: Introductionmentioning

confidence: 99%

“…At least 40 OXCT1 mutations have been reported in patients with SCOT deficiency, most of which are missense. 3,6 The prevalence of SCOT deficiency is unknown; however, more than 40 cases have been reported in literature. In Saudi Arabia, where consanguinity is high, enrichment of homozygous alleles and preponderance of single founder mutations in recessively inherited diseases are expected.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

et al. 2021

View full text Add to dashboard Cite

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis.Analysis of longitudinal data in such an ultra-rare disease is warranted to delineate genotype-phenotype correlations and management outcome. A retrospective analysis of 17 patients, from nine unrelated families, with SCOT deficiency who were followed up in the Medical Genetics Clinic at King Faisal Specialist Hospital and Research Centre was conducted. All the patients were homozygous for p.R468C in OXCT1 gene. Most of the patients (n = 15, 88.2%) were symptomatic presenting with recurrent ketoacidosis, the onset of which ranged from 6 months to 4 years (median 2 years). A striking inter-and intrafamilial variability that ranged from being entirely asymptomatic to death during the first episode. All patients were instructed to avoid fasting, restrict protein in diet, and receive carnitine supplementation. However, there was no correlation between following instructions of chronic management and outcome. Most of the patients had their crises resolved and all of them had normal neurodevelopmental outcome. Our data suggest that SCOT deficiency caused by homozygous p.R468C has variable clinical presentation and incomplete penetrance. The apparent lack of correlation between protein restriction +/À carnitine supplementation and outcome suggests that chronic dietary restriction may not be warranted. However, a longer follow-up on larger and heterogenous cohort of cases is needed before a clear conclusion on the long-term management can be reached.

show abstract

Section: Discussionmentioning

confidence: 76%

Section: Biochemical Analysismentioning

confidence: 99%