MCID: KTT001
MIFTS: 25

Ketothiolase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Ketothiolase Deficiency

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Aliases & Descriptions for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 24
Deficiency of Acetyl-Coa Acetyltransferase 67
Methylacetoacetyl-Coa Thiolase Deficiency 24
 
Deficiency of Acetyl-Coa Acyltransferase 67
Alpha-Methylacetoaceticaciduria 24
Beta-Ketothiolase Deficiency 24

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 Diseases of metabolism.

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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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 Deficiency24 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 28)
idTitleAuthorsYear
1
Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. (27264805)
2016
2
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. (27928777)
2016
3
NMR-based urinalysis for beta-ketothiolase deficiency. (25195009)
2014
4
A treatable new cause of chorea: beta-ketothiolase deficiency. (23818432)
2013
5
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. (23958592)
2013
6
Beta-ketothiolase deficiency and pregnancy. (23664791)
2013
7
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. (23163837)
2012
8
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
9
Beta-ketothiolase deficiency brought with lethargy: case report. (21247997)
2011
10
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
11
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
12
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
13
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
14
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
15
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
16
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
17
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
18
Beta-ketothiolase deficiency. A case report. (1509529)
1992
19
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
20
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
21
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
22
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
23
A case of beta-ketothiolase deficiency. (6422156)
1983
24
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
25
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
26
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
27
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
28
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". (4812006)
1974

Variations for Ketothiolase Deficiency

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Clinvar genetic disease variations for Ketothiolase Deficiency:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1ACAT1NM_000019.3(ACAT1): c.444_445delGG (p.Met148Ilefs)deletionPathogenicrs727503795GRCh37Chr 11, 108009633: 108009634
2ACAT1NM_000019.3(ACAT1): c.826+1G> TSNVPathogenicrs727503796GRCh37Chr 11, 108012428: 108012428
3ACAT1NM_000019.3(ACAT1): c.1006-4_1006-1delinsAAAindelPathogenicrs797044633GRCh37Chr 11, 108016925: 108016928
4ACAT1NM_000019.3(ACAT1): c.473A> G (p.Asn158Ser)SNVPathogenicrs199524907GRCh37Chr 11, 108009662: 108009662
5ACAT1ACAT1, 1-BP DEL, 149CdeletionPathogenicChr na, -1: -1
6ACAT1NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr)SNVPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
7ACAT1NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg)SNVPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
8ACAT1ACAT1, IVS8, G-T, +1SNVPathogenicChr na, -1: -1
9ACAT1ACAT1, IVS10, A-C, -2SNVPathogenicChr na, -1: -1
10ACAT1ACAT1, IVS10, G-C, -1SNVPathogenicChr na, -1: -1
11ACAT1ACAT1, IVS11, T-C, +2SNVPathogenicChr na, -1: -1
12ACAT1NM_000019.3(ACAT1): c.2T> A (p.Met1Lys)SNVPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
13ACAT1NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val)SNVPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
14ACAT1NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter)SNVPathogenicrs120074144GRCh37Chr 11, 108012415: 108012415
15ACAT1NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del)deletionPathogenicrs387906282GRCh37Chr 11, 108016956: 108016958
16ACAT1NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs)duplicationPathogenicrs387906283GRCh37Chr 11, 108017006: 108017006
17ACAT1NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser)SNVPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
18ACAT1NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr)SNVPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
19ACAT1NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro)SNVPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
20ACAT1NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu)SNVPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967
21ACAT1NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp)SNVPathogenicrs148639841GRCh37Chr 11, 108009661: 108009661
22ACAT1NM_000019.3(ACAT1): c.730+2T> CSNVPathogenicrs398123096GRCh37Chr 11, 108010944: 108010944
23ACAT1NM_000019.3(ACAT1): c.905delA (p.Lys302Argfs)deletionPathogenicrs398123097GRCh37Chr 11, 108013242: 108013242

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
13-methylcrotonyl-CoA carboxylase complex, mitochondrialGO:000216910.3MCCC1, MCCC2
2mitochondrial matrixGO:00057599.4ACAT1, MCCC1, MCCC2
3peroxisomal membraneGO:00057789.4PEX2, PEX6
4peroxisomeGO:00057779.4PEX2, PEX6
5mitochondrial inner membraneGO:00057439.2ACAA2, ACAT1, MCCC1
6mitochondrionGO:00057398.7ACAA2, ACAT1, MCCC1, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1leucine catabolic processGO:00065529.9MCCC1, MCCC2
2biotin metabolic processGO:00067689.8MCCC1, MCCC2
3protein heterooligomerizationGO:00512919.4MCCC1, MCCC2
4peroxisome organizationGO:00070319.4PEX2, PEX6
5branched-chain amino acid catabolic processGO:00090839.2ACAT1, MCCC1, MCCC2

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

idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:00044859.5MCCC1, MCCC2

Sources for Ketothiolase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet