SCOTD
MCID: SCC010
MIFTS: 25

Succinyl Coa:3-Oxoacid Coa Transferase Deficiency (SCOTD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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

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

Name: Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 54 13
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 50 24 25 56 66 69
Scot Deficiency 50 24 25 56 66
Succinyl-Coa:acetoacetate Transferase Deficiency 25 66 29
Ketoacidosis Due to Scot Deficiency 50 25 66
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 25 56
Succinyl-Coa Acetoacetate Transferase Deficiency 50 56
3-Oxoacid Coa Transferase Deficiency 50 25
Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency 66
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency 66
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency 66
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 54
Succinyl-Coa 3-Oxoacid Transferase Deficiency 25
Deficiency of 3-Oxoacid Coa-Transferase 69
Oxct1 Deficiency 56
Scotd 66

Characteristics:

Orphanet epidemiological data:

56
succinyl-coa:3-ketoacid coa transferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
succinyl coa:3-oxoacid coa transferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 245050
Orphanet 56 ORPHA832
ICD10 via Orphanet 34 E71.3
MedGen 40 C0342792
MeSH 42 D007662

Summaries for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

NIH Rare Diseases : 50 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 : 25 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 : 54 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 gastric cancer 9.8

Symptoms & Phenotypes for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

Clinical features from OMIM:

245050

Human phenotypes related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:

32
id Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 tachypnea 32 HP:0002789
3 ketonuria 32 HP:0002919
4 episodic ketoacidosis 32 HP:0005974

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

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

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

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

id Genetic test Affiliating Genes
1 Succinyl-Coa Acetoacetate Transferase Deficiency 29
2 Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 24 OXCT1

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

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

39
Liver, Brain

Publications for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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

id Title Authors Year
1
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. ( 11757586 )
2001

Variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 OXCT1 p.Val133Glu VAR_000696 rs267606930
2 OXCT1 p.Cys456Phe VAR_000697 rs121909300
3 OXCT1 p.Gly219Glu VAR_010337 rs121909302
4 OXCT1 p.Val221Met VAR_010338 rs121909303
5 OXCT1 p.Gly324Glu VAR_010339 rs121909301
6 OXCT1 p.Ala215Val VAR_065564 rs201752548
7 OXCT1 p.Ser226Asn VAR_065565 rs368841359
8 OXCT1 p.Leu327Pro VAR_065566
9 OXCT1 p.Val404Phe VAR_065567
10 OXCT1 p.Ser405Pro VAR_065568
11 OXCT1 p.Arg468Cys VAR_065569

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 OXCT1 NM_000436.3(OXCT1): c.848C> G (p.Ser283Ter) single nucleotide variant Pathogenic rs121909299 GRCh37 Chromosome 5, 41805776: 41805776
2 OXCT1 NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe) single nucleotide variant Pathogenic rs121909300 GRCh37 Chromosome 5, 41749681: 41749681
3 OXCT1 NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu) single nucleotide variant Pathogenic rs121909301 GRCh37 Chromosome 5, 41803250: 41803250
4 OXCT1 NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu) single nucleotide variant Pathogenic rs121909302 GRCh37 Chromosome 5, 41842792: 41842792
5 OXCT1 NM_000436.3(OXCT1): c.661G> A (p.Val221Met) single nucleotide variant Pathogenic rs121909303 GRCh37 Chromosome 5, 41842787: 41842787
6 OXCT1 OXCT1, IVS13DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

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

Pathways for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

GO Terms for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

Sources for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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40 MedGen
42 MeSH
43 MESH via Orphanet
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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