MCID: SCC010
MIFTS: 27

Succinyl Coa:3-Oxoacid Coa Transferase Deficiency malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Aliases & Descriptions for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

Name: Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 50 12
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 46 23 24 52 68 66
Scot Deficiency 46 23 24 52 68
Succinyl-Coa:acetoacetate Transferase Deficiency 24 68 25
Ketoacidosis Due to Scot Deficiency 46 24 68
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 24 52
Succinyl-Coa Acetoacetate Transferase Deficiency 46 52
3-Oxoacid Coa Transferase Deficiency 46 24
 
Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency 68
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency 68
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency 68
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 50
Succinyl-Coa 3-Oxoacid Transferase Deficiency 24
Deficiency of 3-Oxoacid Coa-Transferase 66
Oxct1 Deficiency 52
Scotd 68

Characteristics:

Orphanet epidemiological data:

52
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
succinyl coa:3-oxoacid coa transferase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 245050
Orphanet52 ORPHA832
ICD10 via Orphanet29 E71.3
MedGen35 C0342792
MeSH37 D007662

Summaries for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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NIH Rare Diseases:46 Scot deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid coa transferase. this enzyme is necessary for the body to use ketones. ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. scot deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). in ketoacidosis ketones build-up in the body. symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. crises need to be addressed immediately. fortunately these crises tend to respond well to iv fluids including glucose and sodium bicarbonate. patients with scot defiency are symptom free between episodes. this deficiency can be caused by mutations in the oxct1 gene. last updated: 9/4/2010

MalaCards based summary: Succinyl Coa:3-Oxoacid Coa Transferase Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to gastric cancer, and has symptoms including vomiting, tachypnea and ketonuria. An important gene associated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency is OXCT1 (3-Oxoacid CoA-Transferase 1). Affiliated tissues include liver and brain.

Genetics Home Reference:24 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats.

OMIM:50 Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of... (245050) more...

UniProtKB/Swiss-Prot:68 Succinyl-CoA:3-oxoacid CoA transferase deficiency: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.

Related Diseases for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Diseases related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gastric cancer9.9

Symptoms for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Clinical features from OMIM:

245050

HPO human phenotypes related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

id Description Frequency HPO Source Accession
1 vomiting HP:0002013
2 tachypnea HP:0002789
3 ketonuria HP:0002919
4 episodic ketoacidosis HP:0005974

Drugs & Therapeutics for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

Genetic Tests for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Genetic tests related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

id Genetic test Affiliating Genes
1 Succinyl-Coa Acetoacetate Transferase Deficiency25
2 Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency23 OXCT1

Anatomical Context for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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MalaCards organs/tissues related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

34
Liver, Brain

Animal Models for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency or affiliated genes

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Publications for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Articles related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

idTitleAuthorsYear
1
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. (11757586)
2001

Variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

68 (show all 11)
id Symbol AA change Variation ID SNP ID
1OXCT1p.Val133GluVAR_000696rs267606930
2OXCT1p.Cys456PheVAR_000697rs121909300
3OXCT1p.Gly219GluVAR_010337rs121909302
4OXCT1p.Val221MetVAR_010338rs121909303
5OXCT1p.Gly324GluVAR_010339rs121909301
6OXCT1p.Ala215ValVAR_065564rs201752548
7OXCT1p.Ser226AsnVAR_065565rs368841359
8OXCT1p.Leu327ProVAR_065566
9OXCT1p.Val404PheVAR_065567
10OXCT1p.Ser405ProVAR_065568
11OXCT1p.Arg468CysVAR_065569

Clinvar genetic disease variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OXCT1OXCT1, IVS13DS, G-A, +5single nucleotide variantPathogenic
2OXCT1NM_000436.3(OXCT1): c.848C> G (p.Ser283Ter)single nucleotide variantPathogenicrs121909299GRCh37Chr 5, 41805776: 41805776
3OXCT1NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe)single nucleotide variantPathogenicrs121909300GRCh37Chr 5, 41749681: 41749681
4OXCT1NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu)single nucleotide variantPathogenicrs121909301GRCh37Chr 5, 41803250: 41803250
5OXCT1NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu)single nucleotide variantPathogenicrs121909302GRCh37Chr 5, 41842792: 41842792
6OXCT1NM_000436.3(OXCT1): c.661G> A (p.Val221Met)single nucleotide variantPathogenicrs121909303GRCh37Chr 5, 41842787: 41842787

Expression for genes affiliated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Search GEO for disease gene expression data for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency.

Pathways for genes affiliated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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GO Terms for genes affiliated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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Sources for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet