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Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO. Grünert SC, et al. Biochimie. 2021 Apr;183:55-62. doi: 10.1016/j.biochi.2021.02.003. Epub 2021 Feb 14. Biochimie. 2021. PMID: 33596448
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 previousl …
Succinyl-CoA:3-oxoacid coenzyme A transferase deficiency (SCOTD) is a rare autosomal recessive disorder of ketone body utilization caused by …
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, Fukao T. Sasai H, et al. J Inherit Metab Dis. 2017 Nov;40(6):845-852. doi: 10.1007/s10545-017-0065-z. Epub 2017 Jul 10. J Inherit Metab Dis. 2017. PMID: 28695376
To confirm their heterozygous state, we performed a multiplex ligation-dependent probe amplification analysis on the OXCT1 gene which excluded the presence of large deletions or insertions in another allele. ...Of these, a heterozygous OXCT1 mutation was found in tw …
To confirm their heterozygous state, we performed a multiplex ligation-dependent probe amplification analysis on the OXCT1 gene which …
When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
Schwade JN, Endmann M, Hofmann T, Rust S, Sass JO, Rutsch F. Schwade JN, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1121-1124. doi: 10.1515/jpem-2017-0177. J Pediatr Endocrinol Metab. 2017. PMID: 28820737
Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) enzyme activity was low in patient's fibroblasts. Mutation analysis of the corresponding OXCT1 gene revealed that the patient was a homozygous carrier of the mutation c.1523T>C (p.V508A). ...
Succinyl-CoA: 3-oxoacid CoA transferase (SCOT) enzyme activity was low in patient's fibroblasts. Mutation analysis of the corresponding O …
A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.
Amirkashani D, Asadollahi M, Hosseini R, Talebi S, Golchehre Z, Keramatipour M. Amirkashani D, et al. Iran J Child Neurol. 2023 Spring;17(2):127-133. doi: 10.22037/ijcn.v17i2.35963. Epub 2023 Mar 15. Iran J Child Neurol. 2023. PMID: 37091464 Free PMC article.
Poor response to treatment raised a significant diagnostic challenge among specialists until genetic investigation identified a homozygous nonsense mutation (c.79G>T; p.Gly27*) in the OXCT1 gene (NM_000436), causing SCOT deficiency. Genetic studies help clinicians achie …
Poor response to treatment raised a significant diagnostic challenge among specialists until genetic investigation identified a homozygous n …
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency.
Kim YA, Kim SH, Cheon CK, Kim YM. Kim YA, et al. Yonsei Med J. 2019 Mar;60(3):308-311. doi: 10.3349/ymj.2019.60.3.308. Yonsei Med J. 2019. PMID: 30799594 Free PMC article.
While high levels of ketone bodies were found in her blood and urine, other laboratory investigations, including serum glucose, were unremarkable. We identified novel compound heterozygous mutations in OXCT1:c.1118T>G (p.Ile373Ser) and a large deletion ranging from exon …
While high levels of ketone bodies were found in her blood and urine, other laboratory investigations, including serum glucose, were unremar …
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW. Shafqat N, et al. J Inherit Metab Dis. 2013 Nov;36(6):983-7. doi: 10.1007/s10545-013-9589-z. Epub 2013 Feb 19. J Inherit Metab Dis. 2013. PMID: 23420214 Free PMC article.
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mi …
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by keto …
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. Fukao T, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652411
He is a compound heterozygote of c.1304C > A (T435N) and c.658-666dupAACGTGATT p.N220_I222dup. mutations in the OXCT1 gene. The T435N mutation was previously reported as one which retained significant residual activity. ...
He is a compound heterozygote of c.1304C > A (T435N) and c.658-666dupAACGTGATT p.N220_I222dup. mutations in the OXCT1 gene. The T4 …
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts.
Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO, Kondo N. Hori T, et al. Hum Mutat. 2013 Mar;34(3):473-80. doi: 10.1002/humu.22258. Epub 2013 Jan 22. Hum Mutat. 2013. PMID: 23281106
The molecular basis of simultaneous two-exon skipping induced by a splice-site mutation has yet to be completely explained. The splice donor site mutation c.1248+5g>a (IVS13) of the OXCT1 gene resulted predominantly in skipping of exons 12 and 13 in fibroblasts from a p …
The molecular basis of simultaneous two-exon skipping induced by a splice-site mutation has yet to be completely explained. The splice donor …
Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Mertens M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL. Wiedemann A, et al. EBioMedicine. 2024 Jan;99:104911. doi: 10.1016/j.ebiom.2023.104911. Epub 2024 Jan 1. EBioMedicine. 2024. PMID: 38168585 Free PMC article.
RNA-seq analysis showed decreased expression of MT-TT (mitochondrial tRNA threonine), MT-TP (mitochondrial tRNA proline), OXCT1 (succinyl CoA:3-oxoacid CoA transferase deficiency), and MT-CO1 (cytochrome C oxidase subunit 1) …
RNA-seq analysis showed decreased expression of MT-TT (mitochondrial tRNA threonine), MT-TP (mitochondrial tRNA proline), OXCT1 (s …