MCID: KTT001
MIFTS: 24

Ketothiolase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Ketothiolase Deficiency

MalaCards integrated aliases for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 24
Deficiency of Acetyl-Coa Acetyltransferase 69
Methylacetoacetyl-Coa Thiolase Deficiency 24
Deficiency of Acetyl-Coa Acyltransferase 69
Alpha-Methylacetoaceticaciduria 24
Beta-Ketothiolase Deficiency 24

Classifications:



Summaries for Ketothiolase Deficiency

MalaCards based summary : Ketothiolase Deficiency, also known as deficiency of acetyl-coa acetyltransferase, is related to alpha-methylacetoacetic aciduria and ciliary dyskinesia, primary, 33, and has symptoms including vomiting An important gene associated with Ketothiolase Deficiency is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways/superpathways are Metabolism and Diseases of metabolism.

Related Diseases for Ketothiolase Deficiency

Graphical network of the top 20 diseases related to Ketothiolase Deficiency:



Diseases related to Ketothiolase Deficiency

Symptoms & Phenotypes for Ketothiolase Deficiency

UMLS symptoms related to Ketothiolase Deficiency:


vomiting

Drugs & Therapeutics for Ketothiolase Deficiency

Search Clinical Trials , NIH Clinical Center for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency 24 ACAT1

Anatomical Context for Ketothiolase Deficiency

Publications for Ketothiolase Deficiency

Articles related to Ketothiolase Deficiency:

(show all 30)
id Title Authors Year
1
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. ( 28726122 )
2017
2
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10A years' experience of a medical center in northern Vietnam. ( 28220263 )
2017
3
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. ( 27264805 )
2016
4
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. ( 27928777 )
2016
5
NMR-based urinalysis for beta-ketothiolase deficiency. ( 25195009 )
2014
6
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. ( 23958592 )
2013
7
Beta-ketothiolase deficiency and pregnancy. ( 23664791 )
2013
8
A treatable new cause of chorea: beta-ketothiolase deficiency. ( 23818432 )
2013
9
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. ( 23163837 )
2012
10
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
11
Beta-ketothiolase deficiency brought with lethargy: case report. ( 21247997 )
2011
12
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
13
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. ( 9700610 )
1998
14
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
15
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. ( 9183994 )
1997
16
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
17
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. ( 7749408 )
1995
18
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
19
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. ( 7520129 )
1994
20
Beta-ketothiolase deficiency. A case report. ( 1509529 )
1992
21
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
22
beta-Ketothiolase deficiency with favourable evolution. ( 3126364 )
1987
23
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. ( 3435793 )
1987
24
Two cases of beta-ketothiolase deficiency: a comparison. ( 6434866 )
1984
25
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. ( 6133567 )
1983
26
A case of beta-ketothiolase deficiency. ( 6422156 )
1983
27
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
28
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. ( 7173255 )
1982
29
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. ( 7299555 )
1981
30
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". ( 4812006 )
1974

Variations for Ketothiolase Deficiency

Expression for Ketothiolase Deficiency

Search GEO for disease gene expression data for Ketothiolase Deficiency.

Pathways for Ketothiolase Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 ACAA2 ACAT1 ARSH GALNS MCCC1 MCCC2
2
Show member pathways
11.3 MCCC1 MCCC2
3
Show member pathways
11.22 ACAA2 ACAT1
4 11.07 PEX2 PEX6
5
Show member pathways
11 ACAA2 ACAT1 MCCC1 MCCC2
6
Show member pathways
10.03 MCCC1 MCCC2

GO Terms for Ketothiolase Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.5 ACAA2 ACAT1 MCCC1
2 mitochondrial matrix GO:0005759 9.46 ACAA2 ACAT1 MCCC1 MCCC2
3 peroxisome GO:0005777 9.37 PEX2 PEX6
4 peroxisomal membrane GO:0005778 9.26 PEX2 PEX6
5 methylcrotonoyl-CoA carboxylase complex GO:1905202 8.96 MCCC1 MCCC2
6 3-methylcrotonyl-CoA carboxylase complex, mitochondrial GO:0002169 8.62 MCCC1 MCCC2

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 ACAA2 ACAT1 ARSH GALNS
2 protein heterooligomerization GO:0051291 9.43 MCCC1 MCCC2
3 peroxisome organization GO:0007031 9.4 PEX2 PEX6
4 biotin metabolic process GO:0006768 9.32 MCCC1 MCCC2
5 coenzyme A metabolic process GO:0015936 9.26 ACAT1 MCCC2
6 leucine catabolic process GO:0006552 9.16 MCCC1 MCCC2
7 fatty acid beta-oxidation GO:0006635 9.13 ACAA2 ACAT1 PEX2
8 branched-chain amino acid catabolic process GO:0009083 8.8 ACAT1 MCCC1 MCCC2

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

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.43 ACAA2 ACAT1 MCCC1
2 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.16 ACAA2 ACAT1
3 sulfuric ester hydrolase activity GO:0008484 8.96 ARSH GALNS
4 methylcrotonoyl-CoA carboxylase activity GO:0004485 8.62 MCCC1 MCCC2

Sources for Ketothiolase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....