MCID: KTT001
MIFTS: 26

Ketothiolase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Ketothiolase Deficiency

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Aliases & Descriptions for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 23
Deficiency of Acetyl-Coa Acetyltransferase 66
Methylacetoacetyl-Coa Thiolase Deficiency 23
 
Deficiency of Acetyl-Coa Acyltransferase 66
Alpha-Methylacetoaceticaciduria 23
Beta-Ketothiolase Deficiency 23

Classifications:



Summaries for Ketothiolase Deficiency

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MalaCards based summary: Ketothiolase Deficiency, also known as deficiency of acetyl-coa acetyltransferase, is related to alpha-methylacetoacetic aciduria and huntington disease-like 2, and has symptoms including vomiting and acetonaemic vomiting. 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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UMLS symptoms related to Ketothiolase Deficiency:


vomiting, acetonaemic vomiting

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 Deficiency23 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 27)
idTitleAuthorsYear
1
Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. (27264805)
2016
2
NMR-based urinalysis for beta-ketothiolase deficiency. (25195009)
2014
3
A treatable new cause of chorea: beta-ketothiolase deficiency. (23818432)
2013
4
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. (23958592)
2013
5
Beta-ketothiolase deficiency and pregnancy. (23664791)
2013
6
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. (23163837)
2012
7
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
8
Beta-ketothiolase deficiency brought with lethargy: case report. (21247997)
2011
9
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
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
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
14
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
15
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
16
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
17
Beta-ketothiolase deficiency. A case report. (1509529)
1992
18
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
19
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
20
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
21
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
22
A case of beta-ketothiolase deficiency. (6422156)
1983
23
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
24
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
25
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
26
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
27
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
1peroxisomal membraneGO:00057789.9PEX2, PEX6
23-methylcrotonyl-CoA carboxylase complex, mitochondrialGO:00021699.8MCCC1, MCCC2
3peroxisomeGO:00057779.7PEX2, PEX6
4mitochondrial matrixGO:00057598.9ACAT1, MCCC1, MCCC2
5mitochondrial inner membraneGO:00057438.7ACAA2, ACAT1, MCCC1
6mitochondrionGO:00057398.2ACAA2, ACAT1, MCCC1, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1peroxisome organizationGO:00070319.9PEX2, PEX6
2leucine catabolic processGO:00065529.4MCCC1, MCCC2
3biotin metabolic processGO:00067689.4MCCC1, MCCC2
4protein heterooligomerizationGO:00512918.9MCCC1, MCCC2
5branched-chain amino acid catabolic processGO:00090838.7ACAT1, MCCC1, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:00044859.0MCCC1, MCCC2

Sources for Ketothiolase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet