MCID: KTT001
MIFTS: 24

Ketothiolase Deficiency malady

Genetic diseases (common) category

Aliases & Classifications for Ketothiolase Deficiency

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Aliases & Descriptions for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 22
Methylacetoacetyl-Coa Thiolase Deficiency 22
 
Alpha-Methylacetoaceticaciduria 22
Beta Ketothiolase Deficiency 22


Classifications:



Summaries for Ketothiolase Deficiency

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MalaCards based summary: Ketothiolase Deficiency, also known as methylacetoacetyl-coa thiolase deficiency, is related to alpha-methylacetoacetic aciduria and zellweger syndrome. An important gene associated with Ketothiolase Deficiency is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are Fatty acid metabolism and Peroxisome.

Related Diseases for Ketothiolase Deficiency

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Graphical network of the top 20 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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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22 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 25)
idTitleAuthorsYear
1
NMR-based urinalysis for beta-ketothiolase deficiency. (25195009)
2014
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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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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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
1peroxisomeGO:00057779.6PEX2, PEX6
2peroxisomal membraneGO:00057789.6PEX2, PEX6
3mitochondrial matrixGO:00057598.7ACAT1, MCCC1, MCCC2
4mitochondrial inner membraneGO:00057438.7ACAA2, ACAT1, MCCC1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1peroxisome organizationGO:000703110.1PEX2, PEX6
2leucine catabolic processGO:00065529.7MCCC1, MCCC2
3biotin metabolic processGO:00067689.7MCCC1, MCCC2
4vitamin metabolic processGO:00067669.4MCCC1, MCCC2
5water-soluble vitamin metabolic processGO:00067679.3MCCC1, MCCC2
6branched-chain amino acid catabolic processGO:00090839.2ACAT1, MCCC1, MCCC2
7cellular nitrogen compound metabolic processGO:00346418.8ACAT1, MCCC1, MCCC2
8small molecule metabolic processGO:00442817.9ACAT1, ARSH, GALNS, MCCC1, MCCC2
9metabolic processGO:00081527.4ACAA2, ACAT1, ARSH, GALNS, MCCC1, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1sulfuric ester hydrolase activityGO:000848410.2ARSH, GALNS
2transferase activity, transferring acyl groups other than amino-acyl groupsGO:001674710.1ACAA2, ACAT1
3methylcrotonoyl-CoA carboxylase activityGO:00044859.8MCCC1, MCCC2
4catalytic activityGO:00038248.3ACAA2, ACAT1, ARSH, GALNS, MCCC1
5metal ion bindingGO:00468728.0ACAT1, ARSH, GALNS, MCCC1, PEX2

Sources for Ketothiolase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet