MCID: SCC010
MIFTS: 25

Succinyl Coa:3-Oxoacid Coa Transferase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

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

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

Name: Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 45 10
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 45 41 20 21 47 60
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 41 21 47
Scot Deficiency 41 21 47
Succinyl-Coa Acetoacetate Transferase Deficiency 41 47
 
Succinyl-Coa:acetoacetate Transferase Deficiency 21 22
3-Oxoacid Coa Transferase Deficiency 41 21
Ketoacidosis Due to Scot Deficiency 41 21
Oxct1 Deficiency 41 47
Succinyl-Coa 3-Oxoacid Transferase Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 245050
Orphanet47 832
ICD10 via Orphanet26 E71.3

Summaries for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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NIH Rare Diseases:41 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, is also known as succinyl-coa:3-oxoacid coa transferase deficiency, and has symptoms including autosomal recessive inheritance, vomiting and tachypnea. 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:21 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:45 Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of... (245050) more...

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

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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 autosomal recessive inheritance HP:0000007
2 vomiting HP:0002013
3 tachypnea HP:0002789
4 ketonuria HP:0002919
5 episodic ketoacidosis HP:0005974

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

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Drug clinical trials:

Search ClinicalTrials for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

Search 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:3-Oxoacid Coa Transferase Deficiency20 OXCT1
2 Succinyl-Coa Acetoacetate Transferase Deficiency22

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:

31
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:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1OXCT1p.Val133GluVAR_000696
2OXCT1p.Cys456PheVAR_000697
3OXCT1p.Gly219GluVAR_010337
4OXCT1p.Val221MetVAR_010338
5OXCT1p.Gly324GluVAR_010339
6OXCT1p.Ala215ValVAR_065564rs201752548
7OXCT1p.Ser226AsnVAR_065565
8OXCT1p.Leu327ProVAR_065566
9OXCT1p.Val404PheVAR_065567
10OXCT1p.Ser405ProVAR_065568
11OXCT1p.Arg468CysVAR_065569

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

6
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.173C> T (p.Thr58Met)single nucleotide variantPathogenicrs75134564GRCh37Chr 5, 41862758: 41862758
5OXCT1NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu)single nucleotide variantPathogenicrs121909301GRCh37Chr 5, 41803250: 41803250
6OXCT1NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu)single nucleotide variantPathogenicrs121909302GRCh37Chr 5, 41842792: 41842792
7OXCT1NM_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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Compounds 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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Products for genes affiliated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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  • Antibodies
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  • Kits and Assays

Sources for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet