MCID: KTT001
MIFTS: 25

Ketothiolase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Ketothiolase Deficiency

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Ketothiolase Deficiency, Aliases & Descriptions:

Name: Ketothiolase Deficiency 20


Classifications:

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


Summaries for Ketothiolase Deficiency

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MalaCards based summary: Ketothiolase Deficiency is related to zellweger syndrome and alpha-methylacetoacetic aciduria. An important gene associated with Ketothiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are tryptophan utilization II and superpathway of cholesterol biosynthesis. The compounds isoleucine and 17beta-hydroxysteroid have been mentioned in the context of this disorder.

Related Diseases for Ketothiolase Deficiency

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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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Drug clinical trials:

Search ClinicalTrials for Ketothiolase Deficiency

Search NIH Clinical Center for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

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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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Articles related to Ketothiolase Deficiency:

(show all 26)
idTitleAuthorsYear
1
NMR-based urinalysis for beta-ketothiolase deficiency. (25195009)
2014
2
A treatable new cause of chorea: beta-ketothiolase deficiency. (23818432)
2013
3
Beta-ketothiolase deficiency and pregnancy. (23664791)
2013
4
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. (23958592)
2013
5
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. (23163837)
2012
6
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
7
Beta-ketothiolase deficiency brought with lethargy: case report. (21247997)
2011
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
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
10
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
11
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
12
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
13
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
14
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
15
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
16
Beta-ketothiolase deficiency. A case report. (1509529)
1992
17
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
18
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
19
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
20
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
21
A case of beta-ketothiolase deficiency. (6422156)
1983
22
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
23
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
24
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
25
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
26
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". (4812006)
1974

Variations for Ketothiolase Deficiency

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Expression for genes affiliated with Ketothiolase Deficiency

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Search GEO for disease gene expression data for Ketothiolase Deficiency.

Pathways for genes affiliated with Ketothiolase Deficiency

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Pathways related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.7ACAT2, ACAT1
2
Show member pathways
Cholesterol biosynthesis36
lanosterol biosynthesis36
zymosterol biosynthesis36
mevalonate pathway I36
epoxysqualene biosynthesis36
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)36
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)36
trans, trans-farnesyl diphosphate biosynthesis36
cholesterol biosynthesis I36
cholesterol biosynthesis III (via desmosterol)36
geranylgeranyldiphosphate biosynthesis36
9.7ACAT2, ACAT1
39.7ACAT1, ACAT2
4
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
9.7ACAT1, ACAT2
59.7ACAT1, ACAT2
6
Show member pathways
Synthesis and Degradation of Ketone Bodies36
ketolysis36
9.7HMGCL, ACAT1
7
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.6HSD17B10, ACAT1, MAT1A
8
Show member pathways
9.4HSD17B10, ACAT1, ACAT2
9
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.4MAT1A, ACAT1, ACAT2
10
Show member pathways
fatty acid beta-oxidation I36
eicosapentaenoate biosynthesis II (metazoa)36
gamma-linolenate biosynthesis II (animals)36
fatty acid activation36
9.4ACAA2, HSD17B10
11
Show member pathways
9.2HMGCL, ACAT2, ACAT1
12
Show member pathways
oleate biosynthesis II (animals)36
9.1ACAA1, ACAA2
138.6ACAA1, PEX6, PEX2, HMGCL
14
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
8.4ACAT1, ACAA1, ACAA2, ACAT2
15
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
7.6ACAA2, HSD17B10, ACAT1, ACAA1, ACAT2, HMGCL
16
Show member pathways
6.3ACAT1, ARSH, GALNS, HSD17B10, ACAA1, ACAT2

Compounds for genes affiliated with Ketothiolase Deficiency

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
1isoleucine439.9ACAT1, HSD17B10
217beta-hydroxysteroid439.8HSD17B10, ARSH
3n-acetylgalactosamine 6-sulfate439.8GALNS, ARSH
4glucuronic acid439.6ARSH, 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 coa439.3ACAT1, ACAT2, ACAA2
19Tetradecanoyl-CoA249.3ACAA1, ACAA2
202-Methylacetoacetyl-CoA249.2HSD17B10, ACAA1, ACAA2
21glucosamine43 24 1211.2ARSH, GALNS
223-Oxooctanoyl-CoA249.2HSD17B10, ACAA1, ACAA2
233-Oxohexadecanoyl-CoA249.2HSD17B10, ACAA1, ACAA2
24Heptanoyl-CoA249.0ACAA2, ACAA1, HSD17B10
25lipid438.8ARSH, MAT1A, ACAT2, HSD17B10, PEX2
263-Oxohexanoyl-CoA248.8ACAT1, ACAA1, ACAT2, ACAA2
27Coenzyme A24 129.7ACAT1, ACAA1, ACAT2, ACAA2
28cysteine438.6ARSH, GALNS, HMGCL, MAT1A
29Acetoacetyl-CoA248.5ACAA2, ACAT2, ACAA1, ACAT1, HSD17B10
30acetyl-coa43 249.2ACAT1, ACAA1, ACAT2, ACAA2, HMGCL

GO Terms for genes affiliated with Ketothiolase Deficiency

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Cellular components related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:00057789.4PEX6, PEX2
2mitochondrial matrixGO:00057599.3HSD17B10, ACAT1, HMGCL
3peroxisomeGO:00057779.0HMGCL, ACAA1, PEX6
4mitochondrial inner membraneGO:00057438.6HMGCL, ACAA2, ACAT1, HSD17B10
5mitochondrionGO:00057398.5HMGCL, ACAA2, ACAT1, HSD17B10

Biological processes related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1branched-chain amino acid catabolic processGO:000908310.0ACAT1, HSD17B10
2cellular ketone body metabolic processGO:00469509.9ACAT1, HMGCL
3ketone body biosynthetic processGO:00469519.9HMGCL, ACAT1
4peroxisome organizationGO:00070319.8PEX6, PEX2
5very long-chain fatty acid metabolic processGO:00000389.8ACAA1, PEX2
6liver developmentGO:00018899.7HMGCL, ACAT1
7response to starvationGO:00425949.6HMGCL, ACAT1
8cellular nitrogen compound metabolic processGO:00346419.6HSD17B10, ACAT1, MAT1A
9cellular lipid metabolic processGO:00442559.3ACAT1, ACAA1, HMGCL
10fatty acid beta-oxidationGO:00066359.3ACAA1, PEX2
11small molecule metabolic processGO:00442817.8ARSH, GALNS, HMGCL, MAT1A, ACAA1, ACAT1

Molecular functions related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:00039888.8ACAA2, ACAA1
2metal ion bindingGO:00468728.4ARSH, GALNS, HMGCL, MAT1A, ACAT1

Products for genes affiliated with Ketothiolase Deficiency

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Sources for Ketothiolase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet