MCID: KTT001
MIFTS: 30

Ketothiolase Deficiency malady

Genetic diseases (common) category
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Summaries for Ketothiolase Deficiency

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33MalaCards
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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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20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

ketothiolase deficiency 20
deficiency of acetyl-coa acetyltransferase 62


Related Diseases for Ketothiolase Deficiency

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Ketothiolase Deficiency

Search NIH Clinical Center for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

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20GeneTests
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Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency20 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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52PubMed
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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, 15Gene 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:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 60Thomson 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 biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.7ACAT2, ACAT1
29.7ACAT2, ACAT1
39.7ACAT1, ACAT2
4
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.7ACAT1, ACAT2
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.7ACAT1, ACAT2
6
Show member pathways
Synthesis and Degradation of Ketone Bodies38
ketolysis38
9.7HMGCL, ACAT1
7
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.6MAT1A, ACAT1, HSD17B10
8
Show member pathways
9.4ACAT2, ACAT1, HSD17B10
9
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.4ACAT1, ACAT2, MAT1A
10
Show member pathways
fatty acid beta-oxidation I38
eicosapentaenoate biosynthesis II (metazoa)38
gamma-linolenate biosynthesis II (animals)38
fatty acid activation38
9.4ACAA2, HSD17B10
11
Show member pathways
9.2ACAT1, ACAT2, HMGCL
12
Show member pathways
oleate biosynthesis II (animals)38
9.1ACAA2, ACAA1
138.6HMGCL, ACAA1, PEX6, PEX2
14
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
8.4ACAT1, ACAA1, ACAT2, ACAA2
15
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
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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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1isoleucine459.9ACAT1, HSD17B10
217beta-hydroxysteroid459.8HSD17B10, ARSH
3n-acetylgalactosamine 6-sulfate459.8GALNS, ARSH
4glucuronic acid459.6ARSH, GALNS
5CoA-omega-COOH-dinor-LTE4249.5ACAA1, ACAA2
67'-carboxy-gama-tocotrienol249.5ACAA1, ACAA2
77'-carboxy-alpha-tocotrienol249.5ACAA1, ACAA2
85'-Carboxy-gama-chromanol249.5ACAA1, ACAA2
95'-Carboxy-alpha-chromanol249.5ACAA1, ACAA2
10Chenodeoxyglycocholoyl-CoA249.4ACAA1, ACAA2
11Chenodeoxycholoyl-CoA249.4ACAA1, ACAA2
123a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA249.4ACAA1, ACAA2
133a,7a-Dihydroxy-5b-cholestanoyl-CoA249.4ACAA1, ACAA2
14Choloyl-CoA249.4ACAA2, ACAA1
153-Oxotetradecanoyl-CoA249.4ACAA1, ACAA2
163-Oxododecanoyl-CoA249.4ACAA1, ACAA2
173-Oxodecanoyl-CoA249.3ACAA2, ACAA1
18acetoacetyl coa459.3ACAT1, ACAT2, ACAA2
19Tetradecanoyl-CoA249.3ACAA1, ACAA2
202-Methylacetoacetyl-CoA249.2HSD17B10, ACAA1, ACAA2
21glucosamine45 24 1111.2ARSH, GALNS
223-Oxooctanoyl-CoA249.2HSD17B10, ACAA1, ACAA2
233-Oxohexadecanoyl-CoA249.2HSD17B10, ACAA1, ACAA2
24Heptanoyl-CoA249.0ACAA2, ACAA1, HSD17B10
25lipid458.8ARSH, MAT1A, ACAT2, HSD17B10, PEX2
263-Oxohexanoyl-CoA248.8ACAT1, ACAA1, ACAT2, ACAA2
27Coenzyme A24 119.7ACAT1, ACAA1, ACAT2, ACAA2
28cysteine458.6ARSH, GALNS, HMGCL, MAT1A
29Acetoacetyl-CoA248.5ACAA2, ACAT2, ACAA1, ACAT1, HSD17B10
30acetyl-coa45 249.2ACAT1, ACAA1, ACAT2, ACAA2, HMGCL

GO Terms for genes affiliated with Ketothiolase Deficiency

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet