MCID: KTT001
MIFTS: 30

Ketothiolase Deficiency malady

Genetic diseases (common) category

Summaries for Ketothiolase Deficiency

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34MalaCards
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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 superpathway of cholesterol biosynthesis and Lysine degradation. The compounds isoleucine and 17beta-hydroxysteroid have been mentioned in the context of this disorder.

Aliases & Classifications for Ketothiolase Deficiency

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21GeneTests, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

ketothiolase deficiency 21
deficiency of acetyl-coa acetyltransferase 63


Related Diseases for Ketothiolase Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Ketothiolase Deficiency:



Diseases related to ketothiolase deficiency

Symptoms for Ketothiolase Deficiency

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Drugs & Therapeutics for Ketothiolase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests
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Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency21 ACAT1

Anatomical Context for Ketothiolase Deficiency

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Animal Models for Ketothiolase Deficiency or affiliated genes

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Publications for Ketothiolase Deficiency

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53PubMed
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Articles related to Ketothiolase Deficiency:

(show all 25)
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
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
8
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
9
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
10
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
11
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
12
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
13
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
14
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
15
Beta-ketothiolase deficiency. A case report. (1509529)
1992
16
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
17
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
18
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
19
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
20
A case of beta-ketothiolase deficiency. (6422156)
1983
21
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
22
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
23
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
24
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
25
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". (4812006)
1974

Variations for Ketothiolase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Ketothiolase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1ACAT1NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr)single nucleotide variantPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
2ACAT1NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg)single nucleotide variantPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
3ACAT1NM_000019.3(ACAT1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
4ACAT1NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val)single nucleotide variantPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
5ACAT1NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter)single nucleotide variantPathogenicrs120074144GRCh37Chr 11, 108012415: 108012415
6ACAT1NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del)deletionPathogenicrs387906282GRCh37Chr 11, 108016956: 108016958
7ACAT1NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser)single nucleotide variantPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
8ACAT1NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr)single nucleotide variantPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
9ACAT1NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro)single nucleotide variantPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
10ACAT1NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu)single nucleotide variantPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967

Expression for genes affiliated with Ketothiolase Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson Reuters
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Pathways related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.7ACAT2, ACAT1
29.7ACAT2, ACAT1
39.7ACAT1, ACAT2
4
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
9.7ACAT1, ACAT2
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)39
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA39
tryptophan degradation39
glutaryl-CoA degradation39
serotonin degradation39
NAD de novo biosynthesis39
superpathway of melatonin degradation39
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde39
tryptophan utilization I39
melatonin degradation I39
9.7ACAT1, ACAT2
6
Show member pathways
Synthesis and Degradation of Ketone Bodies39
ketolysis39
9.7HMGCL, ACAT1
7
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.6MAT1A, ACAT1, HSD17B10
8
Show member pathways
9.4ACAT2, ACAT1, HSD17B10
9
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.4ACAT1, ACAT2, MAT1A
10
Show member pathways
fatty acid beta-oxidation I39
eicosapentaenoate biosynthesis II (metazoa)39
gamma-linolenate biosynthesis II (animals)39
fatty acid activation39
9.4ACAA2, HSD17B10
11
Show member pathways
9.2ACAT1, ACAT2, HMGCL
12
Show member pathways
oleate biosynthesis II (animals)39
9.1ACAA2, ACAA1
138.6HMGCL, ACAA1, PEX6, PEX2
14
Show member pathways
mitochondrial L-carnitine shuttle pathway39
Saturated fatty acid biosynthesis61
8.4ACAT1, ACAA1, ACAT2, ACAA2
15
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
7.6HMGCL, HSD17B10, ACAT1, ACAA1, ACAT2, ACAA2
16
Show member pathways
6.3HSD17B10, ACAT1, ACAA1, ACAT2, ACAA2, MAT1A

Compounds for genes affiliated with Ketothiolase Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1isoleucine469.9ACAT1, HSD17B10
217beta-hydroxysteroid469.8HSD17B10, ARSH
3n-acetylgalactosamine 6-sulfate469.8GALNS, ARSH
4glucuronic acid469.6ARSH, GALNS
5CoA-omega-COOH-dinor-LTE4259.5ACAA1, ACAA2
67'-carboxy-gama-tocotrienol259.5ACAA1, ACAA2
77'-carboxy-alpha-tocotrienol259.5ACAA1, ACAA2
85'-Carboxy-gama-chromanol259.5ACAA1, ACAA2
95'-Carboxy-alpha-chromanol259.5ACAA1, ACAA2
10Chenodeoxyglycocholoyl-CoA259.4ACAA1, ACAA2
11Chenodeoxycholoyl-CoA259.4ACAA1, ACAA2
123a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA259.4ACAA1, ACAA2
133a,7a-Dihydroxy-5b-cholestanoyl-CoA259.4ACAA1, ACAA2
14Choloyl-CoA259.4ACAA2, ACAA1
153-Oxotetradecanoyl-CoA259.4ACAA1, ACAA2
163-Oxododecanoyl-CoA259.4ACAA1, ACAA2
173-Oxodecanoyl-CoA259.3ACAA2, ACAA1
18acetoacetyl coa469.3ACAT1, ACAT2, ACAA2
19Tetradecanoyl-CoA259.3ACAA1, ACAA2
202-Methylacetoacetyl-CoA259.2HSD17B10, ACAA1, ACAA2
21glucosamine46 25 1211.2ARSH, GALNS
223-Oxooctanoyl-CoA259.2HSD17B10, ACAA1, ACAA2
233-Oxohexadecanoyl-CoA259.2HSD17B10, ACAA1, ACAA2
24Heptanoyl-CoA259.0ACAA2, ACAA1, HSD17B10
25lipid468.8ARSH, MAT1A, ACAT2, HSD17B10, PEX2
263-Oxohexanoyl-CoA258.8ACAT1, ACAA1, ACAT2, ACAA2
27Coenzyme A25 129.7ACAT1, ACAA1, ACAT2, ACAA2
28cysteine468.6ARSH, GALNS, HMGCL, MAT1A
29Acetoacetyl-CoA258.5ACAA2, ACAT2, ACAA1, ACAT1, HSD17B10
30acetyl-coa46 259.2ACAT1, ACAA1, ACAT2, ACAA2, HMGCL

GO Terms for genes affiliated with Ketothiolase Deficiency

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17Gene Ontology
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Cellular components related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.4PEX6, PEX2
2mitochondrial matrixGO:0057599.3HSD17B10, ACAT1, HMGCL
3peroxisomeGO:0057779.0HMGCL, ACAA1, PEX6
4mitochondrial inner membraneGO:0057438.6HMGCL, ACAA2, ACAT1, HSD17B10
5mitochondrionGO:0057398.5HMGCL, ACAA2, ACAT1, HSD17B10

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1branched-chain amino acid catabolic processGO:00908310.0ACAT1, HSD17B10
2cellular ketone body metabolic processGO:0469509.9ACAT1, HMGCL
3ketone body biosynthetic processGO:0469519.9HMGCL, ACAT1
4peroxisome organizationGO:0070319.8PEX6, PEX2
5very long-chain fatty acid metabolic processGO:0000389.8ACAA1, PEX2
6liver developmentGO:0018899.7HMGCL, ACAT1
7response to starvationGO:0425949.6HMGCL, ACAT1
8cellular nitrogen compound metabolic processGO:0346419.6HSD17B10, ACAT1, MAT1A
9cellular lipid metabolic processGO:0442559.3ACAT1, ACAA1, HMGCL
10fatty acid beta-oxidationGO:0066359.3ACAA1, PEX2
11small molecule metabolic processGO:0442817.8ARSH, GALNS, HMGCL, MAT1A, ACAA1, ACAT1

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

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039888.8ACAA2, ACAA1
2metal ion bindingGO:0468728.4ARSH, GALNS, HMGCL, MAT1A, ACAT1

Products for genes affiliated with Ketothiolase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ketothiolase Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet