MCID: KTT001
MIFTS: 28

Ketothiolase Deficiency malady

Summaries for Ketothiolase Deficiency

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Ketothiolase Deficiency, also known as deficiency of acetyl-coa acetyltransferase, is related to beta-ketothiolase deficiency and zellweger syndrome. An important gene associated with Ketothiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Ketone body metabolism. The compounds 2-methyl-3-hydroxybutyryl-coa and 17beta-hydroxysteroid have been mentioned in the context of this disorder.

Aliases & Classifications for Ketothiolase Deficiency

Sources:
20GeneTests, 61UMLS
See all sources

Aliases & Descriptions:

ketothiolase deficiency 20
deficiency of acetyl-coa acetyltransferase 61


Related Diseases for Ketothiolase Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Ketothiolase Deficiency:



Diseases related to ketothiolase deficiency

Clinical Features for Ketothiolase Deficiency

Drugs & Therapeutics for Ketothiolase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Ketothiolase Deficiency

Drug clinical trials:

Search ClinicalTrials for Ketothiolase Deficiency

Search NIH Clinical Center for Ketothiolase Deficiency

Search CenterWatch for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

Sources:
20GeneTests
See all sources

Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency20 ACAT1

Anatomical Context for Ketothiolase Deficiency

Animal Models for Ketothiolase Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Ketothiolase Deficiency

Sources:
51PubMed
See all sources

Articles related to Ketothiolase Deficiency:

(show all 44)
idTitleAuthorsYear
1
A treatable new cause of chorea: beta-ketothiolase deficiency. (23818432)
2013
2
Beta-ketothiolase deficiency and pregnancy. (23664791)
2013
3
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. (23958592)
2013
4
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. (23163837)
2012
5
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. (23430882)
2012
6
Beta-ketothiolase deficiency brought with lethargy: case report. (21247997)
2011
7
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. (11161836)
2001
8
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
9
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? (10604145)
1999
10
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
11
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
12
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency. (9090533)
1997
13
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. (8892029)
1996
14
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. (9001814)
1996
15
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
16
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency. (7728155)
1995
17
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
18
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms. (7726380)
1994
19
Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins. (8099727)
1993
20
Beta-ketothiolase deficiency. A case report. (1509529)
1992
21
Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase. (1359192)
1992
22
Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency. (1362011)
1992
23
Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. (1627655)
1992
24
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. (1362557)
1992
25
Molecular basis of 3-ketothiolase deficiency. (1438401)
1992
26
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. (1346617)
1992
27
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. (1715688)
1991
28
Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3- ketothiolase deficiency. (1979337)
1990
29
Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency. (1978869)
1990
30
3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA. (1970183)
1990
31
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency. (2570398)
1989
32
3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients. (2575689)
1989
33
Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency. (3148087)
1988
34
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency. (2893809)
1988
35
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
36
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
37
3-Ketothiolase deficiency. (3709573)
1986
38
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
39
A case of beta-ketothiolase deficiency. (6422156)
1983
40
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
41
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia. (7059658)
1982
42
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
43
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
44
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". (4812006)
1974

Genetic Variations for Ketothiolase Deficiency

Expression for genes affiliated with Ketothiolase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Ketothiolase Deficiency

Search GEO for disease gene expression data for Ketothiolase Deficiency.

Pathways for genes affiliated with Ketothiolase Deficiency

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ACAT2, ACAT1
2
Hide members
9.8ACAT1, ACAT2
3
Hide members
9.8ACAT1, ACAT2
4
Hide members
9.8ACAT2, ACAT1
5
Hide members
9.8ACAT1, ACAT2
69.8ACAT2, ACAT1
7
Hide members
9.8ACAT2, ACAT1
89.8ACAT2, ACAT1
9
Hide members
9.5ACAT2, ACAT1, HSD17B10
10
Hide members
9.5ACAT2, ACAT1, MAT1A
119.2HSD17B10, MAT1A, ACADSB, ACAT1
12
Hide members
9.1ACAA2, ACAA1
13
Hide members
8.8ACAA2, ACAA1, HSD17B10
148.7HMGCL, ACAA1, PEX2, PEX6
15
Hide members
8.0ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
16
Hide members
7.5HMGCL, ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
17
Hide members
7.2ACAT2, ACAT1, ACADSB, ACAA2, ACAA1, HMGCL

Compounds for genes affiliated with Ketothiolase Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
12-methyl-3-hydroxybutyryl-coa45 2411.0HSD17B10, ACADSB
217beta-hydroxysteroid459.8ARSH, HSD17B10
3n-acetylgalactosamine 6-sulfate459.8ARSH, GALNS
4isoleucine459.8HSD17B10, ACAT1, ACADSB
5acyl-coa459.6PEX6, HSD17B10, ACADSB
6glucuronic acid459.4GALNS, ARSH
7acetoacetyl coa459.3ACAT2, ACAT1, ACAA2
82-methylbutyryl-coa45 249.9ACAA2, ACADSB, ACAA1
9octanoyl-coa45 249.9ACAA1, ACAA2, ACADSB
10(2E)-Decenoyl-CoA248.9ACAA2, ACAA1, ACADSB
11(2E)-Dodecenoyl-CoA248.9ACADSB, ACAA2, ACAA1
12(2E)-Tetradecenoyl-CoA248.8ACAA1, ACADSB, ACAA2
13(2E)-Octenoyl-CoA248.8ACADSB, ACAA2, ACAA1
14Coenzyme A11 249.8ACAT2, ACAT1, ACAA2, ACAA1
15(2E)-Hexadecenoyl-CoA248.7ACAA2, ACAA1, ACADSB
16stearoyl-coa45 249.7ACADSB, ACAA2, ACAA1
17lipid458.5MAT1A, PEX2, ARSH, HSD17B10, ACAT2
18acetyl-coa45 248.8ACAA1, HMGCL, ACAA2, ACADSB, ACAT1, ACAT2

GO Terms for genes affiliated with Ketothiolase Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.8PEX6, PEX2
2mitochondrial matrixGO:0057599.0ACAT1, ACADSB, HMGCL, HSD17B10
3peroxisomeGO:0057778.8PEX6, ACAA1, HMGCL
4mitochondrial inner membraneGO:0057438.5HSD17B10, HMGCL, ACAA2, ACAT1
5mitochondrionGO:0057397.7HSD17B10, HMGCL, ACAA2, ACADSB, ACAT1, ACAT2

Biological processes related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:0469509.9ACAT1, HMGCL
2ketone body biosynthetic processGO:0469519.8ACAT1, HMGCL
3peroxisome organizationGO:0070319.8PEX6, PEX2
4very long-chain fatty acid metabolic processGO:0000389.7PEX2, ACAA1
5branched-chain amino acid catabolic processGO:0090839.7HSD17B10, ACADSB, ACAT1
6response to starvationGO:0425949.6ACAT1, HMGCL
7cellular nitrogen compound metabolic processGO:0346419.4ACAT1, ACADSB, MAT1A, HSD17B10
8fatty acid beta-oxidationGO:0066359.3ACAA1, PEX2
9cellular lipid metabolic processGO:0442559.2HMGCL, ACAA1, ACAT1
10fatty acid metabolic processGO:0066319.2ACAA2, ACADSB
11small molecule metabolic processGO:0442817.4ACAT1, ACADSB, ACAA1, HMGCL, HSD17B10, GALNS

Molecular functions related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039889.1ACAA2, ACAA1

Products for genes affiliated with Ketothiolase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ketothiolase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet