SCOTD
MCID: SCC011
MIFTS: 32

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

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Respiratory 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 56
Scot Deficiency 56 74 52 25 58 73
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 52 25 58 73 71
Succinyl-Coa Acetoacetate Transferase Deficiency 52 58 29 6 39
Ketoacidosis Due to Scot Deficiency 56 52 25 73
Succinyl-Coa:acetoacetate Transferase Deficiency 56 25 73
Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency 56 73
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 25 58
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 56 13
3-Oxoacid Coa Transferase Deficiency 52 25
Scotd 56 73
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 36
Succinyl-Coa:3-Ketoacid-Coa Transferase Deficiency 73
Succinyl-Coa-3-Ketoacid-Coa Transferase Deficiency 73
Succinyl-Coa 3-Oxoacid Transferase Deficiency 25
Deficiency of 3-Oxoacid Coa-Transferase 71
Oxct1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
succinyl-coa:3-ketoacid coa transferase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

31
succinyl-coa:3-oxoacid-coa transferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 245050
KEGG 36 H01121
MeSH 43 D007662
ICD10 via Orphanet 33 E71.3
UMLS via Orphanet 72 C0342792
Orphanet 58 ORPHA832
MedGen 41 C0342792
UMLS 71 C0342792 C1291422

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

NIH Rare Diseases : 52 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 hypoglycemia and attention deficit-hyperactivity disorder. 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, brain and testes, and related phenotypes are vomiting and tachypnea

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. The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks. People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.

OMIM : 56 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)

KEGG : 36 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT/OXCT1 is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency of SCOT activity inhibits peripheral ketone body utilization and causes episodes of severe ketoacidosis.

UniProtKB/Swiss-Prot : 73 Succinyl-CoA:3-oxoacid CoA transferase deficiency: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.

Wikipedia : 74 Succinyl-CoA:3-oxoacid CoA transferase deficiency is an inborn error of ketone body utilization.... 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 hypoglycemia 10.7
2 attention deficit-hyperactivity disorder 10.6
3 ocular motor apraxia 10.6
4 monocarboxylate transporter 1 deficiency 10.6
5 autosomal recessive disease 10.6
6 metabolic acidosis 10.6
7 inherited metabolic disorder 10.6
8 renal tubular acidosis 10.5
9 distal renal tubular acidosis 10.5
10 phenylketonuria 9.9

Graphical network of the top 20 diseases related to Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency:



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

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

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

31
# Description HPO Frequency HPO Source Accession
1 vomiting 31 HP:0002013
2 tachypnea 31 HP:0002789
3 ketonuria 31 HP:0002919
4 episodic ketoacidosis 31 HP:0005974

Clinical features from OMIM:

245050

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:

40
Liver, Brain, Testes

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

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

(show all 30)
# Title Authors PMID Year
1
Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts. 61 56 6
23281106 2013
2
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. 61 56 6
10964512 2000
3
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient. 61 56 6
8751852 1996
4
A new case of succinyl-CoA: acetoacetate transferase deficiency. 56 6
1405472 1992
5
Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. 61 56
11757586 2001
6
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. 61 6
9671268 1998
7
Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency. 61 56
8844009 1996
8
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis. 61 52
28695376 2017
9
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. 61 52
21296660 2011
10
A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity. 56
11286388 2001
11
Succinyl-CoA:3-ketoacid CoA-transferase deficiency. 56
9521962 1998
12
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. 6
9392403 1997
13
Medical aspects of ketone body metabolism. 56
7554586 1995
14
A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency. 56
7474899 1995
15
Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy. 56
4258782 1972
16
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency. 61
30799594 2019
17
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene. 61
31073471 2018
18
Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism. 61
28488182 2018
19
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. 61
28820737 2017
20
Inborn errors of ketone body utilization. 61
25559898 2015
21
Ketone body metabolism and its defects. 61
24706027 2014
22
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. 61
23420214 2013
23
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. 61
20652411 2010
24
Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. 61
17706444 2007
25
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene. 61
17169596 2007
26
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. 61
16765626 2006
27
Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. 61
15496607 2004
28
Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. 61
15330163 2004
29
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. 61
15669687 2004
30
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. 61
9128180 1997

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

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

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OXCT1 NM_000436.4(OXCT1):c.848C>G (p.Ser283Ter)SNV Pathogenic 8163 rs121909299 5:41805776-41805776 5:41805674-41805674
2 OXCT1 NM_000436.4(OXCT1):c.1367G>T (p.Cys456Phe)SNV Pathogenic 8164 rs121909300 5:41749681-41749681 5:41749579-41749579
3 OXCT1 NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu)SNV Pathogenic 8166 rs121909301 5:41803250-41803250 5:41803148-41803148
4 OXCT1 NM_000436.4(OXCT1):c.656G>A (p.Gly219Glu)SNV Pathogenic 8167 rs121909302 5:41842792-41842792 5:41842690-41842690
5 OXCT1 NM_000436.4(OXCT1):c.661G>A (p.Val221Met)SNV Pathogenic 8168 rs121909303 5:41842787-41842787 5:41842685-41842685
6 OXCT1 NM_000436.4(OXCT1):c.1248+5G>ASNV Pathogenic 41497 rs1561081472 5:41794100-41794100 5:41793998-41793998
7 OXCT1 NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)SNV Pathogenic 800772 5:41749646-41749646 5:41749544-41749544
8 OXCT1 NM_000436.4(OXCT1):c.193G>A (p.Gly65Arg)SNV Likely pathogenic 802120 5:41861501-41861501 5:41861399-41861399
9 OXCT1 NM_000436.4(OXCT1):c.424G>C (p.Ala142Pro)SNV Likely pathogenic 631482 rs1561128268 5:41850272-41850272 5:41850170-41850170
10 OXCT1 NM_000436.4(OXCT1):c.79-11deldeletion Conflicting interpretations of pathogenicity 353669 rs748715820 5:41862863-41862863 5:41862761-41862761
11 OXCT1 NM_000436.4(OXCT1):c.1491C>T (p.Asp497=)SNV Conflicting interpretations of pathogenicity 93003 rs144283422 5:41739522-41739522 5:41739420-41739420
12 OXCT1 NM_000436.4(OXCT1):c.733-3T>CSNV Conflicting interpretations of pathogenicity 353662 rs77000151 5:41807543-41807543 5:41807441-41807441
13 OXCT1 NM_000436.4(OXCT1):c.696G>A (p.Leu232=)SNV Conflicting interpretations of pathogenicity 353663 rs138363255 5:41840589-41840589 5:41840487-41840487
14 OXCT1 NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)SNV Conflicting interpretations of pathogenicity 167412 rs76956231 5:41862819-41862819 5:41862717-41862717
15 OXCT1 NM_000436.4(OXCT1):c.*1072A>GSNV Uncertain significance 353648 rs557656999 5:41730759-41730759 5:41730657-41730657
16 OXCT1 NM_000436.4(OXCT1):c.*1041G>ASNV Uncertain significance 353649 rs561517616 5:41730790-41730790 5:41730688-41730688
17 OXCT1 NM_000436.4(OXCT1):c.*935A>GSNV Uncertain significance 353650 rs184393125 5:41730896-41730896 5:41730794-41730794
18 OXCT1 NM_000436.4(OXCT1):c.*157G>ASNV Uncertain significance 353653 rs555729750 5:41731674-41731674 5:41731572-41731572
19 OXCT1 NM_000436.4(OXCT1):c.1339-12T>CSNV Uncertain significance 353658 rs747453069 5:41749721-41749721 5:41749619-41749619
20 OXCT1 NM_000436.4(OXCT1):c.1099+2T>CSNV Uncertain significance 353659 rs202242762 5:41801122-41801122 5:41801020-41801020
21 OXCT1 NM_000436.4(OXCT1):c.79-22dupduplication Uncertain significance 353668 rs748715820 5:41862862-41862863 5:41862760-41862761
22 OXCT1 NM_000436.4(OXCT1):c.402G>T (p.Glu134Asp)SNV Uncertain significance 353667 rs886060638 5:41853533-41853533 5:41853431-41853431
23 OXCT1 NM_000436.4(OXCT1):c.*567C>TSNV Uncertain significance 353651 rs886060633 5:41731264-41731264 5:41731162-41731162
24 OXCT1 NM_000436.4(OXCT1):c.1080T>C (p.Asp360=)SNV Uncertain significance 353660 rs140869022 5:41801143-41801143 5:41801041-41801041
25 OXCT1 NM_000436.4(OXCT1):c.956-15A>GSNV Uncertain significance 353661 rs886060636 5:41803280-41803280 5:41803178-41803178
26 OXCT1 NM_000436.4(OXCT1):c.518A>G (p.Lys173Arg)SNV Uncertain significance 353666 rs886060637 5:41850178-41850178 5:41850076-41850076
27 OXCT1 NM_000436.4(OXCT1):c.-54G>ASNV Uncertain significance 353670 rs886060639 5:41870514-41870514 5:41870412-41870412
28 OXCT1 NM_000436.3(OXCT1):c.-133G>ASNV Uncertain significance 353672 rs886060640 5:41870593-41870593 5:41870491-41870491
29 OXCT1 NM_000436.4(OXCT1):c.-5C>GSNV Uncertain significance 93002 rs200129807 5:41870465-41870465 5:41870363-41870363
30 OXCT1 NM_000436.3(OXCT1):c.-305G>ASNV Uncertain significance 353675 rs760328716 5:41870765-41870765 5:41870663-41870663
31 OXCT1 NM_000436.4(OXCT1):c.*1229C>TSNV Uncertain significance 353646 rs191846235 5:41730602-41730602 5:41730500-41730500
32 OXCT1 NM_000436.4(OXCT1):c.*1077dupduplication Uncertain significance 353647 rs768996194 5:41730753-41730754 5:41730651-41730652
33 OXCT1 NM_000436.4(OXCT1):c.*138C>ASNV Uncertain significance 353654 rs886060634 5:41731693-41731693 5:41731591-41731591
34 OXCT1 NM_000436.4(OXCT1):c.*94A>GSNV Uncertain significance 353655 rs886060635 5:41731737-41731737 5:41731635-41731635
35 OXCT1 NM_000436.4(OXCT1):c.671+3A>GSNV Uncertain significance 353664 rs766352197 5:41842774-41842774 5:41842672-41842672
36 OXCT1 NM_000436.4(OXCT1):c.565-13C>TSNV Uncertain significance 353665 rs370659097 5:41842896-41842896 5:41842794-41842794
37 OXCT1 NM_000436.4(OXCT1):c.-60C>GSNV Uncertain significance 353671 rs182767661 5:41870520-41870520 5:41870418-41870418
38 OXCT1 NM_000436.4(OXCT1):c.*191A>GSNV Uncertain significance 353652 rs185659338 5:41731640-41731640 5:41731538-41731538
39 OXCT1 NM_000436.4(OXCT1):c.*26G>ASNV Uncertain significance 353656 rs190436225 5:41731805-41731805 5:41731703-41731703
40 OXCT1 NM_000436.4(OXCT1):c.1555G>A (p.Ala519Thr)SNV Uncertain significance 353657 rs180683984 5:41731839-41731839 5:41731737-41731737
41 OXCT1 NM_000436.4(OXCT1):c.853C>T (p.Arg285Trp)SNV Uncertain significance 568255 rs750604881 5:41805771-41805771 5:41805669-41805669
42 OXCT1 NM_000436.4(OXCT1):c.671+6G>ASNV Uncertain significance 663211 5:41842771-41842771 5:41842669-41842669
43 OXCT1 NM_000436.4(OXCT1):c.955+4T>GSNV Uncertain significance 665521 5:41805665-41805665 5:41805563-41805563
44 OXCT1 NM_000436.4(OXCT1):c.78+10dupduplication Likely benign 93008 rs368390833 5:41870368-41870369 5:41870266-41870267
45 OXCT1 NM_000436.4(OXCT1):c.*1444G>TSNV Likely benign 353644 rs10227 5:41730387-41730387 5:41730285-41730285
46 OXCT1 NM_000436.4(OXCT1):c.*1434G>CSNV Likely benign 353645 rs77675837 5:41730397-41730397 5:41730295-41730295
47 OXCT1 NM_000436.3(OXCT1):c.-192G>ASNV Likely benign 353673 rs75587220 5:41870652-41870652 5:41870550-41870550
48 OXCT1 NM_000436.3(OXCT1):c.-346G>ASNV Likely benign 369475 rs138037654 5:41870806-41870806 5:41870704-41870704
49 OXCT1 NM_000436.4(OXCT1):c.480G>T (p.Gly160=)SNV Benign/Likely benign 167411 rs78432029 5:41850216-41850216 5:41850114-41850114
50 OXCT1 NM_000436.4(OXCT1):c.173C>T (p.Thr58Met)SNV Benign 242800 rs75134564 5:41862758-41862758 5:41862656-41862656

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

73 (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 rs132740197

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:

36
# 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
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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