MCID: SCC011
MIFTS: 28

Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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

MalaCards integrated aliases for Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency:

Name: Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 57
Scot Deficiency 57 76 53 25 59 75
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 53 25 59 75 73
Succinyl-Coa Acetoacetate Transferase Deficiency 53 59 29 6 40
Ketoacidosis Due to Scot Deficiency 57 53 25 75
Succinyl-Coa:acetoacetate Transferase Deficiency 57 25 75
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency 57 75
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 25 59
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 57 13
3-Oxoacid Coa Transferase Deficiency 53 25
Scotd 57 75
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 37
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency 75
Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency 75
Succinyl-Coa 3-Oxoacid Transferase Deficiency 25
Deficiency of 3-Oxoacid Coa-Transferase 73
Oxct1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 245050
Orphanet 59 ORPHA832
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 74 C0342792
MedGen 42 C0342792
MeSH 44 D007662
KEGG 37 H01121

Summaries for Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency

NIH Rare Diseases : 53 SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of carbohydrates (sugar). SCOT deficiency is characterized by episodes of ketoacidosis (build-up of ketones in the body). Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, and lethargy. In some cases, the symptoms can progress to include loss of consciousness and a coma. In between these episodes, individuals with SCOT deficiency do not have any symptoms. SCOT deficiency is caused by mutations (changes) in the OXCT1 gene. The disease is inherited in an autosomal recessive manner. SCOT deficiency can be diagnosed by ruling out other causes of ketoacidosis and measuring the level of SCOT enzyme. Genetic testing of the OXCT1 gene can be used to confirm the diagnosis. Immediate treatment of ketoacidotic crises is critical. Treatment options include IV fluids such as glucose and sodium bicarbonate. Frequent meals and eating a diet low in fats is important to reduce the frequency of ketoacidotic crises.

MalaCards based summary : Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency, also known as scot deficiency, is related to phenylketonuria and gastric cancer. An important gene associated with Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency is OXCT1 (3-Oxoacid CoA-Transferase 1), and among its related pathways/superpathways are Synthesis and degradation of ketone bodies and Valine, leucine and isoleucine degradation. Affiliated tissues include liver, testes and brain, and related phenotypes are vomiting and tachypnea

OMIM : 57 Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate. (245050)

UniProtKB/Swiss-Prot : 75 Succinyl-CoA:3-oxoacid CoA transferase deficiency: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.

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.

Wikipedia : 76 Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOT deficiency) is an inborn error of ketone body... more...

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:

# Related Disease Score Top Affiliating Genes
1 phenylketonuria 9.9
2 gastric cancer 9.9

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
# 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:

# Genetic test Affiliating Genes
1 Succinyl-Coa Acetoacetate Transferase Deficiency 29 OXCT1

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

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

41
Liver, Testes, Brain

Publications for Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency

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

(show all 12)
# Title Authors Year
1
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis. ( 28695376 )
2017
2
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. ( 28820737 )
2017
3
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. ( 23420214 )
2013
4
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. ( 21296660 )
2011
5
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. ( 20652411 )
2010
6
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. ( 16765626 )
2006
7
Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. ( 15330163 )
2004
8
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. ( 15669687 )
2004
9
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. ( 11757586 )
2001
10
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. ( 9671268 )
1998
11
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. ( 9128180 )
1997
12
Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT- deficient patient. ( 8751852 )
1996

Variations for Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency

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

75 (show all 11)
# 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
(show top 50) (show all 79)
# 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.848C> G (p.Ser283Ter) single nucleotide variant Pathogenic rs121909299 GRCh38 Chromosome 5, 41805674: 41805674
3 OXCT1 NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe) single nucleotide variant Pathogenic rs121909300 GRCh37 Chromosome 5, 41749681: 41749681
4 OXCT1 NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe) single nucleotide variant Pathogenic rs121909300 GRCh38 Chromosome 5, 41749579: 41749579
5 OXCT1 NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu) single nucleotide variant Pathogenic rs121909301 GRCh37 Chromosome 5, 41803250: 41803250
6 OXCT1 NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu) single nucleotide variant Pathogenic rs121909301 GRCh38 Chromosome 5, 41803148: 41803148
7 OXCT1 NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu) single nucleotide variant Pathogenic rs121909302 GRCh37 Chromosome 5, 41842792: 41842792
8 OXCT1 NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu) single nucleotide variant Pathogenic rs121909302 GRCh38 Chromosome 5, 41842690: 41842690
9 OXCT1 NM_000436.3(OXCT1): c.661G> A (p.Val221Met) single nucleotide variant Pathogenic rs121909303 GRCh37 Chromosome 5, 41842787: 41842787
10 OXCT1 NM_000436.3(OXCT1): c.661G> A (p.Val221Met) single nucleotide variant Pathogenic rs121909303 GRCh38 Chromosome 5, 41842685: 41842685
11 OXCT1 OXCT1, IVS13DS, G-A, +5 single nucleotide variant Pathogenic
12 OXCT1 NM_000436.3(OXCT1): c.480G> T (p.Gly160=) single nucleotide variant Benign/Likely benign rs78432029 GRCh37 Chromosome 5, 41850216: 41850216
13 OXCT1 NM_000436.3(OXCT1): c.480G> T (p.Gly160=) single nucleotide variant Benign/Likely benign rs78432029 GRCh38 Chromosome 5, 41850114: 41850114
14 OXCT1 NM_000436.3(OXCT1): c.*1072A> G single nucleotide variant Uncertain significance rs557656999 GRCh38 Chromosome 5, 41730657: 41730657
15 OXCT1 NM_000436.3(OXCT1): c.*1072A> G single nucleotide variant Uncertain significance rs557656999 GRCh37 Chromosome 5, 41730759: 41730759
16 OXCT1 NM_000436.3(OXCT1): c.*1041G> A single nucleotide variant Uncertain significance rs561517616 GRCh38 Chromosome 5, 41730688: 41730688
17 OXCT1 NM_000436.3(OXCT1): c.*1041G> A single nucleotide variant Uncertain significance rs561517616 GRCh37 Chromosome 5, 41730790: 41730790
18 OXCT1 NM_000436.3(OXCT1): c.*935A> G single nucleotide variant Uncertain significance rs184393125 GRCh38 Chromosome 5, 41730794: 41730794
19 OXCT1 NM_000436.3(OXCT1): c.*935A> G single nucleotide variant Uncertain significance rs184393125 GRCh37 Chromosome 5, 41730896: 41730896
20 OXCT1 NM_000436.3(OXCT1): c.*157G> A single nucleotide variant Uncertain significance rs555729750 GRCh38 Chromosome 5, 41731572: 41731572
21 OXCT1 NM_000436.3(OXCT1): c.*157G> A single nucleotide variant Uncertain significance rs555729750 GRCh37 Chromosome 5, 41731674: 41731674
22 OXCT1 NM_000436.3(OXCT1): c.1339-12T> C single nucleotide variant Uncertain significance rs747453069 GRCh38 Chromosome 5, 41749619: 41749619
23 OXCT1 NM_000436.3(OXCT1): c.1339-12T> C single nucleotide variant Uncertain significance rs747453069 GRCh37 Chromosome 5, 41749721: 41749721
24 OXCT1 NM_000436.3(OXCT1): c.1099+2T> C single nucleotide variant Uncertain significance rs202242762 GRCh38 Chromosome 5, 41801020: 41801020
25 OXCT1 NM_000436.3(OXCT1): c.1099+2T> C single nucleotide variant Uncertain significance rs202242762 GRCh37 Chromosome 5, 41801122: 41801122
26 OXCT1 NM_000436.3(OXCT1): c.79-11dupT duplication Uncertain significance rs748715820 GRCh37 Chromosome 5, 41862863: 41862863
27 OXCT1 NM_000436.3(OXCT1): c.79-11dupT duplication Uncertain significance rs748715820 GRCh38 Chromosome 5, 41862761: 41862761
28 OXCT1 NM_000436.3(OXCT1): c.-215A> G single nucleotide variant Benign rs1876654 GRCh37 Chromosome 5, 41870675: 41870675
29 OXCT1 NM_000436.3(OXCT1): c.-215A> G single nucleotide variant Benign rs1876654 GRCh38 Chromosome 5, 41870573: 41870573
30 OXCT1 NM_000436.3(OXCT1): c.-305G> A single nucleotide variant Uncertain significance rs760328716 GRCh37 Chromosome 5, 41870765: 41870765
31 OXCT1 NM_000436.3(OXCT1): c.-305G> A single nucleotide variant Uncertain significance rs760328716 GRCh38 Chromosome 5, 41870663: 41870663
32 OXCT1 NM_000436.3(OXCT1): c.*1229C> T single nucleotide variant Uncertain significance rs191846235 GRCh37 Chromosome 5, 41730602: 41730602
33 OXCT1 NM_000436.3(OXCT1): c.*1229C> T single nucleotide variant Uncertain significance rs191846235 GRCh38 Chromosome 5, 41730500: 41730500
34 OXCT1 NM_000436.3(OXCT1): c.*1077dupA duplication Uncertain significance rs768996194 GRCh37 Chromosome 5, 41730754: 41730754
35 OXCT1 NM_000436.3(OXCT1): c.*1077dupA duplication Uncertain significance rs768996194 GRCh38 Chromosome 5, 41730652: 41730652
36 OXCT1 NM_000436.3(OXCT1): c.*138C> A single nucleotide variant Uncertain significance rs886060634 GRCh38 Chromosome 5, 41731591: 41731591
37 OXCT1 NM_000436.3(OXCT1): c.*138C> A single nucleotide variant Uncertain significance rs886060634 GRCh37 Chromosome 5, 41731693: 41731693
38 OXCT1 NM_000436.3(OXCT1): c.*94A> G single nucleotide variant Uncertain significance rs886060635 GRCh38 Chromosome 5, 41731635: 41731635
39 OXCT1 NM_000436.3(OXCT1): c.*94A> G single nucleotide variant Uncertain significance rs886060635 GRCh37 Chromosome 5, 41731737: 41731737
40 OXCT1 NM_000436.3(OXCT1): c.671+3A> G single nucleotide variant Uncertain significance rs766352197 GRCh37 Chromosome 5, 41842774: 41842774
41 OXCT1 NM_000436.3(OXCT1): c.671+3A> G single nucleotide variant Uncertain significance rs766352197 GRCh38 Chromosome 5, 41842672: 41842672
42 OXCT1 NM_000436.3(OXCT1): c.565-13C> T single nucleotide variant Uncertain significance rs370659097 GRCh37 Chromosome 5, 41842896: 41842896
43 OXCT1 NM_000436.3(OXCT1): c.565-13C> T single nucleotide variant Uncertain significance rs370659097 GRCh38 Chromosome 5, 41842794: 41842794
44 OXCT1 NM_000436.3(OXCT1): c.79-11delT deletion Conflicting interpretations of pathogenicity rs779502986 GRCh37 Chromosome 5, 41862863: 41862863
45 OXCT1 NM_000436.3(OXCT1): c.79-11delT deletion Conflicting interpretations of pathogenicity rs779502986 GRCh38 Chromosome 5, 41862761: 41862761
46 OXCT1 NM_000436.3(OXCT1): c.-60C> G single nucleotide variant Uncertain significance rs182767661 GRCh37 Chromosome 5, 41870520: 41870520
47 OXCT1 NM_000436.3(OXCT1): c.-60C> G single nucleotide variant Uncertain significance rs182767661 GRCh38 Chromosome 5, 41870418: 41870418
48 OXCT1 NM_000436.3(OXCT1): c.*1444G> T single nucleotide variant Likely benign rs10227 GRCh37 Chromosome 5, 41730387: 41730387
49 OXCT1 NM_000436.3(OXCT1): c.*1444G> T single nucleotide variant Likely benign rs10227 GRCh38 Chromosome 5, 41730285: 41730285
50 OXCT1 NM_000436.3(OXCT1): c.*1434G> C single nucleotide variant Likely benign rs77675837 GRCh37 Chromosome 5, 41730397: 41730397

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

Pathways related to Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Synthesis and degradation of ketone bodies hsa00072
2 Valine, leucine and isoleucine degradation hsa00280
3 Butanoate metabolism hsa00650

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
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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