MCID: THL009
MIFTS: 30

Thiolase Deficiency malady

Summaries for Thiolase Deficiency

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

MalaCards: Thiolase Deficiency is related to beta-ketothiolase deficiency and d-bifunctional protein deficiency. An important gene associated with Thiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Ketone body metabolism. The compounds benzoyl-coa and acetoacetyl coa have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Thiolase Deficiency

Sources:
43NIH Rare Diseases
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Aliases & Descriptions:

thiolase deficiency 43


Related Diseases for Thiolase Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Thiolase Deficiency:



Diseases related to thiolase deficiency

Clinical Features for Thiolase Deficiency

Drugs & Therapeutics for Thiolase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Thiolase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Thiolase Deficiency

Search CenterWatch for Thiolase Deficiency

Genetic Tests for Thiolase Deficiency

Anatomical Context for Thiolase Deficiency

Animal Models for Thiolase Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Thiolase Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1HADHA, HADHB, AMACR, HSD17B4

Publications for Thiolase Deficiency

Sources:
51PubMed
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Articles related to Thiolase Deficiency:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. (21669895)
2011
2
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. (20046049)
2010
3
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (20156697)
2010
4
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. (20157782)
2010
5
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. (19291920)
2008
6
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency. (18753430)
2008
7
Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (17719254)
2007
8
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. (15877211)
2005
9
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. (14518824)
2003
10
3-ketoacyl-CoA thiolase deficiency]. (12013987)
2002
11
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein. (11992265)
2002
12
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. (11914035)
2002
13
Acetoacetyl-CoA thiolase deficiency, mitochondrial]. (11462730)
2001
14
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. (11161836)
2001
15
A new case of 2-methylacetoacetyl-CoA thiolase deficiency? (11117436)
2000
16
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
17
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (9744475)
1998
18
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. (9357925)
1997
19
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
20
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. (8892029)
1996
21
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency. (8930414)
1996
22
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
23
Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method. (7617578)
1995
24
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
25
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (7728148)
1995
26
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
27
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. (8750614)
1995
28
6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia. (7914250)
1994
29
Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency. (7907600)
1994
30
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. (8103405)
1993
31
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. (8487503)
1993
32
Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins. (8099727)
1993
33
Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase. (1359192)
1992
34
Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency. (1362011)
1992
35
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. (1405470)
1992
36
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency. (1362557)
1992
37
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. (1346617)
1992
38
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. (1861461)
1991
39
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
40
Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency. (1978869)
1990
41
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. (2365812)
1990
42
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency. (2570398)
1989
43
3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients. (2575689)
1989
44
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (2882519)
1987
45
Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. (2881245)
1987
46
Mitochondrial acetoacetyl-CoA thiolase deficiency. (3778684)
1986
47
Spin-echo and 2-dimensional 1H nuclear magnetic resonance studies on urinary metabolites from patients with 2-methylacetoacetyl CoA thiolase deficiency. (3021361)
1986
48
A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities. (6150117)
1984
49
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism. (36452)
1979
50
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. (20597)
1977

Genetic Variations for Thiolase Deficiency

Expression for genes affiliated with Thiolase Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thiolase Deficiency

Search GEO for disease gene expression data for Thiolase Deficiency.

Pathways for genes affiliated with Thiolase Deficiency

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
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Pathways related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ACAT2, ACAT1
2
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9.7ACAT2, ACAT1
39.7ACAT2, ACAT1
4
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9.3HSD17B4, AMACR
5
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9.3HSD17B4, ACAA1
6
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9.2ACAT2, ACAT1, HADHB
7
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9.2ACAT2, ACAT1, HADHB
8
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9.2ACAT2, ACAT1, HADHB
9
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9.2HADHB, ACAT1, ACAT2
109.2HADHB, HADHA
11
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9.2HADHA, HADHB
12
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9.2HADHA, HADHB
13
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8.9ACAT2, ACAT1, HADHA
148.9HADHA, ACAT1, ACAT2
15
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8.8ACAT1, HADHA, HADHB
168.8ACAA1, AMACR, HSD17B4
17
Hide members
8.8ACAA1, AMACR, HSD17B4
18
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8.7HADHB, HADHA, ACAA1
19
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8.1HADHA, HADHB, AMACR, HSD17B4
20
Hide members
8.1ACAA1, HADHA, HADHB, HSD17B4
21
Hide members
7.9ACAT2, ACAT1, ACAA1, HADHA, HADHB
22
Hide members
7.9HADHB, HADHA, ACAA1, ACAT1, ACAT2

Compounds for genes affiliated with Thiolase Deficiency

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
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Compounds related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1benzoyl-coa45 2410.9ACAA1, HADHB
2acetoacetyl coa459.6HADHB, ACAT1, ACAT2
33-ketopalmitoyl-coa459.6HADHB, HADHA
4i-bop45 2910.6HADHA, HADHB
5phytanic acid459.5ACAA1, AMACR
63-oxoacyl-coa459.5HADHA, ACAA1
7(S)-Hydroxydecanoyl-CoA249.4HSD17B4, HADHA
8(S)-Hydroxyhexanoyl-CoA249.4HADHA, HSD17B4
9(S)-Hydroxyoctanoyl-CoA249.4HADHA, HSD17B4
10(S)-3-Hydroxytetradecanoyl-CoA249.4HSD17B4, HADHA
11(S)-3-Hydroxydodecanoyl-CoA249.4HSD17B4, HADHA
122-methyl-3-hydroxybutyryl-coa45 2410.4HSD17B4, HADHA
13u4661929 4510.3HADHA, HADHB
14cholic acid45 29 11 2412.3AMACR, HSD17B4
15(S)-3-Hydroxyhexadecanoyl-CoA249.2HADHA, HSD17B4
16thromboxane a245 2410.2HADHA, HADHB
17Coenzyme A11 2410.1ACAT2, ACAT1, ACAA1, HADHB
183-methylcrotonyl-coa45 2410.1HADHB, HADHA, ACAA1
192-methylbutyryl-coa45 2410.0ACAA1, HADHA, HADHB
20octanoyl-coa45 2410.0HADHB, HADHA, ACAA1
21(3S)-3-Hydroxyadipyl-CoA249.0HSD17B4, HADHB, HADHA
22(2E)-Tetradecenoyl-CoA249.0HADHB, HADHA, ACAA1
23(2E)-Octenoyl-CoA249.0HADHB, HADHA, ACAA1
24(2E)-Dodecenoyl-CoA249.0HADHB, HADHA, ACAA1
25(2E)-Decenoyl-CoA248.9HADHB, HADHA, ACAA1
26sterol458.9HSD17B4, AMACR, HADHB
27(2E)-Hexadecenoyl-CoA248.9HADHB, HADHA, ACAA1
28thromboxane45 249.9HADHA, HADHB
29stearoyl-coa45 249.9HADHB, HADHA, ACAA1
30citrate458.9AMACR, HADHB, HADHA
31acyl-coa458.4HSD17B4, AMACR, HADHB, HADHA
32fatty acid458.3HSD17B4, AMACR, HADHB, HADHA
33acetyl-coa45 249.3ACAT2, ACAT1, ACAA1, HADHA, HADHB
34lipid458.2AMACR, HADHB, HADHA, ACAT2

GO Terms for genes affiliated with Thiolase Deficiency

Sources:
16Gene Ontology
See all sources

Cellular components related to Thiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:0165079.2HADHB, HADHA
2mitochondrial nucleoidGO:0426458.9HADHA, HADHB
3peroxisomal matrixGO:0057828.9ACAA1, AMACR, HSD17B4
4mitochondrial inner membraneGO:0057438.8ACAT1, HADHA, HADHB
5peroxisomeGO:0057778.7ACAA1, AMACR, HSD17B4
6mitochondrionGO:0057397.4ACAT2, HSD17B4, AMACR, HADHB, HADHA, ACAT1

Biological processes related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1alpha-linolenic acid metabolic processGO:0361099.4HSD17B4, ACAA1
2unsaturated fatty acid metabolic processGO:0335599.3HSD17B4, ACAA1
3cardiolipin acyl-chain remodelingGO:0359659.3HADHA, HADHB
4very long-chain fatty acid metabolic processGO:0000389.2ACAA1, HSD17B4
5glycerophospholipid biosynthetic processGO:0464749.2HADHA, HADHB
6bile acid biosynthetic processGO:0066999.0AMACR, HSD17B4
7fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.0ACAA1, AMACR, HSD17B4
8bile acid metabolic processGO:0082069.0HSD17B4, AMACR, ACAA1
9fatty acid beta-oxidationGO:0066358.3HSD17B4, HADHB, HADHA, ACAA1
10cellular lipid metabolic processGO:0442557.4ACAT1, ACAA1, HADHA, HADHB, AMACR, HSD17B4
11small molecule metabolic processGO:0442817.3HSD17B4, AMACR, HADHB, HADHA, ACAA1, ACAT1

Molecular functions related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039889.5ACAA1, HADHB
2long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:0165099.3HADHB, HADHA
3acetyl-CoA C-acetyltransferase activityGO:0039859.3HADHA, ACAT2
4NAD bindingGO:0512879.2HADHA, HADHB
5enoyl-CoA hydratase activityGO:0043009.1HADHB, HADHA
6fatty-acyl-CoA bindingGO:0000628.9HADHA, HADHB
7long-chain-enoyl-CoA hydratase activityGO:0165088.8HADHA, HADHB, HSD17B4
83-hydroxyacyl-CoA dehydrogenase activityGO:0038578.7HADHA, HADHB, HSD17B4

Products for genes affiliated with Thiolase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thiolase Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet