MCID: KTT001
MIFTS: 30

Ketothiolase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Ketothiolase Deficiency

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Aliases & Descriptions for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 22
Deficiency of Acetyl-Coa Acetyltransferase 65
Methylacetoacetyl-Coa Thiolase Deficiency 22
 
Deficiency of Acetyl-Coa Acyltransferase 65
Alpha-Methylacetoaceticaciduria 22
Beta-Ketothiolase Deficiency 22

Classifications:



External Ids:

UMLS65 C1536500, C0342869

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 multifocal motor neuropathy, and has symptoms including acetonaemic vomitingand vomiting. An important gene associated with Ketothiolase Deficiency is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are Fatty acid metabolism and Diseases of metabolism. Affiliated tissues include prostate, thyroid and lung.

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:


acetonaemic vomiting, 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 Deficiency22 ACAT1

Anatomical Context for Ketothiolase Deficiency

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MalaCards organs/tissues related to Ketothiolase Deficiency:

33
Prostate, Thyroid, Lung

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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GO Terms for genes affiliated with Ketothiolase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1cellular nitrogen compound metabolic processGO:00346419.6ACAT1, MCCC2
2vitamin metabolic processGO:00067669.5MCCC1, MCCC2

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