Succinyl-CoA:3-oxoacid CoA transferase deficiency

Also Known As:

3-Oxoacid Coa Transferase Deficiency; Ketoacidosis due to SCOT deficiency; SCOT deficiency; Succinyl-Coa 3-Oxoacid Transferase Deficiency; Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency; Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency; Succinyl-Coa:Acetoacetate Transferase Deficiency

Networked: 28 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ketosis
2.	Metabolic Diseases (Metabolic Disease)
3.	Vomiting
4.	Stomach Neoplasms (Stomach Cancer)
5.	Phenylketonurias (Phenylketonuria)

Experts

1.	Fukao, Toshiyuki: 9 articles (01/2015 - 11/2006)
2.	Kondo, Naomi: 6 articles (03/2013 - 11/2006)
3.	Sass, Jörn Oliver: 5 articles (04/2021 - 05/2011)
4.	Hori, Tomohiro: 3 articles (01/2015 - 03/2013)
5.	Kursula, Petri: 3 articles (05/2011 - 11/2007)
6.	Al-Hassnan, Zuhair N: 2 articles (11/2021 - 01/2018)
7.	Yue, Wyatt W: 2 articles (04/2021 - 11/2013)
8.	Takayanagi, Masaki: 2 articles (01/2015 - 12/2010)
9.	Murase, Keiko: 2 articles (03/2013 - 12/2010)
10.	Sakaguchi, Naomi: 2 articles (03/2013 - 12/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Succinyl-CoA:3-oxoacid CoA transferase deficiency:

1.	EnzymesIBA 05/01/1996 - "In the present study, we prenatally diagnosed SCOT deficiency in a fetus in a family of which the proband was the first patient with SCOT deficiency identified in Japan, by analysis of enzyme activity levels in samples of chorionic villi and cultured amniocytes. " 04/12/1997 - "These data indicate that immunoblot analysis is useful for diagnosis of SCOT deficiency in combination with enzyme assay." 09/01/1996 - "This mutation (S283X) is incompatible with normal enzyme function and represents the first documentation of a pathogenic mutation in SCOT deficiency." 05/01/1996 - "Since the levels of SCOT activity in control chorionic villi were close to our minimal detectable level and were much lower than those in control cultured amniocytes, enzyme assay in cultured amniocytes was more feasible than that in chorionic villi for prenatal diagnosis of SCOT deficiency. "
2.	TransferasesIBA 01/01/2004 - "Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation." 03/01/2018 - "We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. " 11/01/2013 - "A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency." 05/01/2011 - "Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency." 12/01/2010 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidotic crises and no apparent symptoms between them. "
3.	succinyl-coenzyme A (succinyl-CoA)IBA 10/01/2001 - "Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency." 01/01/2004 - "Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation." 03/01/2018 - "We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. " 11/01/2013 - "A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency." 05/01/2011 - "Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency."
4.	Coenzyme A (CoA)IBA 03/01/2018 - "We describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. " 11/01/2013 - "A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency." 05/01/2011 - "Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency." 12/01/2010 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency causes episodic ketoacidotic crises and no apparent symptoms between them. " 01/01/1998 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings."
5.	KetonesIBA 01/01/2023 - "These observations were independent of muscle ketone oxidation, as they were replicated in mice with a skeletal muscle-specific SCOT deficiency. " 01/01/2004 - "SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. " 05/01/1996 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare disorder of ketone body catabolism. " 01/01/2023 - "Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. " 01/01/2022 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare autosomal recessive disorder that results in severe ketoacidosis due to a defect in ketone utilization. "
6.	RNA Splice SitesIBA 11/01/2006 - "A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency." 03/01/2013 - "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 patient (GS23) with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. "
7.	CarbohydratesIBA 10/01/2001 - "This indicates that patients with SCOT deficiency do not always manifest ketosis with administration of a sufficient amount of carbohydrates, but that even under such conditions hyperketonaemia is difficult to eliminate completely. " 01/01/2023 - "In this case, the accurate and early diagnosis of SCOT deficiency opened new therapeutic possibilities, including frequent carbohydrate-rich meals and low fat and protein diet. "
8.	Acetyl-CoA C-Acyltransferase (beta Ketothiolase)IBA 07/01/2014 - "Succinyl-CoA-3-oxoacid CoA transferase (SCOT) deficiency and beta-ketothiolase (T2) deficiency are two defects in ketolysis. " 01/01/2015 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. "
9.	Beta ketothiolase deficiencyIBA 07/01/2014 - "Succinyl-CoA-3-oxoacid CoA transferase (SCOT) deficiency and beta-ketothiolase (T2) deficiency are two defects in ketolysis. " 01/01/2015 - "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency and mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase or T2) deficiency are classified as autosomal recessive disorders of ketone body utilization characterized by intermittent ketoacidosis. "
10.	Nonsense Codon (Nonsense Mutation)IBA 01/01/2023 - "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. "

Therapies and Procedures

1.	Peritoneal Dialysis 01/01/2023 - "SCOT Deficiency - A Fatal Metabolic Disorder Treated with Peritoneal Dialysis."
2.	Parenteral Nutrition 07/01/2004 - "Parenteral nutrition with MAA may provide preferential energy for patients with some types of gastric cancer with SCOT deficiency."