MCID: THL009
MIFTS: 33

Thiolase Deficiency malady

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Summaries for Thiolase Deficiency

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 hypoglycemia. An important gene associated with Thiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Pyruvate metabolism and Glyoxylate and dicarboxylate metabolism. The compounds Docosa-4,7,10,13,16-pentaenoyl CoA and 3a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Thiolase Deficiency

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43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

thiolase deficiency 43


Related Diseases for Thiolase Deficiency

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



Diseases related to thiolase deficiency

Symptoms for Thiolase Deficiency

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Drugs & Therapeutics for Thiolase Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Thiolase Deficiency

Search NIH Clinical Center for Thiolase Deficiency

Genetic Tests for Thiolase Deficiency

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Anatomical Context for Thiolase Deficiency

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Animal Models for Thiolase Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Thiolase Deficiency:

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

Publications for Thiolase Deficiency

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52PubMed
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Articles related to Thiolase Deficiency:

(show all 41)
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
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
4
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. (19291920)
2008
5
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency. (18753430)
2008
6
Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset]. (17949650)
2007
7
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. (16423905)
2006
8
Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency. (16935016)
2006
9
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. (15877211)
2005
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
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? (10604145)
1999
17
Cytosolic acetoacetyl-CoA thiolase deficiency]. (9590069)
1998
18
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. (9744475)
1998
19
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. (9357925)
1997
20
Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (beta-keto)thiolase deficiency. (9323571)
1997
21
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. (8892029)
1996
22
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency. (8930414)
1996
23
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
24
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
25
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. (7728148)
1995
26
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency. (8750614)
1995
27
6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia. (7914250)
1994
28
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
29
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. (8103405)
1993
30
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism. (8487503)
1993
31
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. (1405470)
1992
32
Characterization of the gene encoding human peroxisomal 3-oxoacyl-CoA thiolase (ACAA). No large DNA rearrangement in a thiolase-deficient patient. (1679347)
1991
33
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
34
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (2318981)
1990
35
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. (2882519)
1987
36
Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. (2881245)
1987
37
Mitochondrial acetoacetyl-CoA thiolase deficiency. (3778684)
1986
38
Spin-echo and 2-dimensional 1H nuclear magnetic resonance studies on urinary metabolites from patients with 2-methylacetoacetyl CoA thiolase deficiency. (3021361)
1986
39
A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities. (6150117)
1984
40
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism. (36452)
1979
41
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. (20597)
1977

Variations for Thiolase Deficiency

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Expression for genes affiliated with Thiolase Deficiency

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Sources:
2BioGPS, 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

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 60Thomson Reuters
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Pathways related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.7ACAT2, ACAT1
29.7ACAT2, ACAT1
3
Show member pathways
Synthesis and Degradation of Ketone Bodies38
ketolysis38
9.6ACAT1, HADHB
4
Show member pathways
9.4HADHA, HADHB
5
Show member pathways
fatty acid beta-oxidation I38
eicosapentaenoate biosynthesis II (metazoa)38
gamma-linolenate biosynthesis II (animals)38
fatty acid activation38
9.4HADHB, HADHA
6
Show member pathways
Cholesterol biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.2HADHB, ACAT1, ACAT2
7
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.2ACAT2, ACAT1, HADHB
8
Show member pathways
9.1AMACR, HSD17B4
9
Show member pathways
9.1ACAA1, HSD17B4
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.1ACAA1, HSD17B4
11
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1HADHA, ACAT1, ACAT2
12
Show member pathways
9.1ACAT2, ACAT1, HADHA
139.1ACAT2, ACAT1, HADHA
14
Show member pathways
9.1ACAT2, ACAT1, HADHA
15
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
9.0ACAT1, HADHA, HADHB
16
Show member pathways
9.0ACAT1, HADHA, HADHB
17
Show member pathways
oleate biosynthesis II (animals)38
8.9HADHB, HADHA, ACAA1
18
Show member pathways
8.6HSD17B4, AMACR, ACAA1
198.6HSD17B4, AMACR, ACAA1
20
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
8.1HADHB, HADHA, ACAT1, ACAA1, ACAT2
21
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
8.1ACAT2, ACAA1, ACAT1, HADHA, HADHB
22
Show member pathways
6.7HADHB, HADHA, HSD17B4, AMACR, ACAT1, ACAA1

Compounds for genes affiliated with Thiolase Deficiency

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

(show top 50)    (show all 83)
idCompoundScoreTop Affiliating Genes
1Docosa-4,7,10,13,16-pentaenoyl CoA249.9ACAA1, HADHB
23a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA249.9ACAA1, HADHB
35'-Carboxy-gama-chromanol249.9ACAA1, HADHB
47'-carboxy-alpha-tocotrienol249.9ACAA1, HADHB
55'-Carboxy-alpha-chromanol249.9ACAA1, HADHB
67'-carboxy-gama-tocotrienol249.9ACAA1, HADHB
7CoA-omega-COOH-dinor-LTE4249.9ACAA1, HADHB
8Chenodeoxycholoyl-CoA249.9ACAA1, HADHB
9Chenodeoxyglycocholoyl-CoA249.9HADHB, ACAA1
10benzoyl-coa45 2410.9HADHB, ACAA1
113a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA249.8ACAA1, HADHB
123a,7a-Dihydroxy-5b-cholestanoyl-CoA249.8HADHB, ACAA1
133-ketopalmitoyl-coa459.8HADHA, HADHB
14i-bop45 2910.8HADHB, HADHA
15acetoacetyl coa459.7HADHB, ACAT1, ACAT2
163-oxoacyl-coa459.7ACAA1, HADHA
17(S)-3-Hydroxydodecanoyl-CoA249.4HSD17B4, HADHA
18(S)-3-Hydroxytetradecanoyl-CoA249.4HSD17B4, HADHA
19(S)-Hydroxydecanoyl-CoA249.3HADHA, HSD17B4
20(S)-Hydroxyhexanoyl-CoA249.3HSD17B4, HADHA
21(S)-Hydroxyoctanoyl-CoA249.3HSD17B4, HADHA
223-methylcrotonyl-coa45 2410.3HADHA, HADHB, ACAA1
23Isovaleryl-CoA249.1HADHB, HADHA, ACAA1
24Coenzyme A24 1110.1ACAT2, ACAT1, HADHB, ACAA1
25Lauroyl-CoA249.1ACAA1, HADHA, HADHB
262-methylbutyryl-coa45 2410.1ACAA1, HADHA, HADHB
272-Methylacetoacetyl-CoA249.1HADHB, HSD17B4, ACAA1
28Nonanoyl-CoA249.1HADHB, HADHA, ACAA1
29Tetracosanoyl-CoA249.1ACAA1, HADHB, HADHA
30Undecanoyl-CoA249.1HADHB, HADHA, ACAA1
31trans-Octadec-2-enoyl-CoA249.0HADHB, HADHA, ACAA1
32(3S)-3-Hydroxyadipyl-CoA249.0HSD17B4, HADHB, HADHA
33Decanoyl-CoA (n-C10:0CoA)249.0HADHB, HADHA, ACAA1
342-Methylhexanoyl-CoA248.9HADHA, ACAA1, HADHB
35Butyryl-CoA248.9HADHB, HADHA, ACAA1
36Hexanoyl-CoA248.9HADHB, HADHA, ACAA1
37Glutaconyl-CoA248.8ACAA1, HADHA, HADHB
38Pristanoyl-CoA248.8HADHA, ACAA1, AMACR, HADHB
39Isobutyryl-CoA248.6HADHB, HADHA, ACAA1
40acetyl-coa45 249.5ACAT2, ACAA1, ACAT1, HADHA, HADHB
413-Oxododecanoyl-CoA248.5HSD17B4, HADHB, ACAA1, HADHA
423-Oxotetradecanoyl-CoA248.5HADHB, ACAA1, HADHA, HSD17B4
433-Oxodecanoyl-CoA248.5HADHA, HSD17B4, ACAA1, HADHB
443-Oxohexadecanoyl-CoA248.5HADHB, HADHA, ACAA1, HSD17B4
453-Oxooctanoyl-CoA248.5HSD17B4, HADHB, ACAA1, HADHA
46acyl-coa458.5HSD17B4, HADHB, AMACR, HADHA
47fatty acid458.3HADHB, HADHA, AMACR, HSD17B4
48Heptanoyl-CoA248.0AMACR, HSD17B4, HADHA, HADHB, ACAA1
49Acetoacetyl-CoA247.7HADHB, ACAT1, HSD17B4, HADHA, ACAT2, ACAA1
503-Oxohexanoyl-CoA247.7ACAT1, HADHB, HADHA, HSD17B4, ACAA1, ACAT2

GO Terms for genes affiliated with Thiolase Deficiency

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16Gene Ontology
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Cellular components related to Thiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:0165079.5HADHA, HADHB
2mitochondrial nucleoidGO:0426459.4HADHA, HADHB
3mitochondrial inner membraneGO:0057438.7HADHB, HADHA, ACAT1
4peroxisomal matrixGO:0057828.7ACAA1, AMACR, HSD17B4
5peroxisomeGO:0057778.5ACAA1, AMACR, HSD17B4
6mitochondrionGO:0057397.7HADHB, HADHA, HSD17B4, AMACR, ACAT1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cardiolipin acyl-chain remodelingGO:0359659.5HADHA, HADHB
2glycerophospholipid biosynthetic processGO:0464749.4HADHA, HADHB
3alpha-linolenic acid metabolic processGO:0361099.2HSD17B4, ACAA1
4unsaturated fatty acid metabolic processGO:0335599.1HSD17B4, ACAA1
5very long-chain fatty acid metabolic processGO:0000389.0ACAA1, HSD17B4
6bile acid biosynthetic processGO:0066998.8AMACR, HSD17B4
7fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335408.8ACAA1, AMACR, HSD17B4
8bile acid metabolic processGO:0082068.8HSD17B4, AMACR, ACAA1
9fatty acid beta-oxidationGO:0066358.3HADHB, HADHA, HSD17B4, ACAA1
10cellular lipid metabolic processGO:0442557.4ACAA1, ACAT1, AMACR, HSD17B4, HADHA, HADHB
11small molecule metabolic processGO:0442817.3HADHB, HADHA, HSD17B4, AMACR, ACAT1, ACAA1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:0165099.5HADHB, HADHA
2acetyl-CoA C-acetyltransferase activityGO:0039859.5HADHA, ACAT2
3acetyl-CoA C-acyltransferase activityGO:0039889.5ACAA1, HADHB
4NAD bindingGO:0512879.4HADHA, HADHB
5enoyl-CoA hydratase activityGO:0043009.3HADHB, HADHA
6fatty-acyl-CoA bindingGO:0000629.1HADHA, HADHB
7long-chain-enoyl-CoA hydratase activityGO:0165088.8HSD17B4, HADHA, HADHB
83-hydroxyacyl-CoA dehydrogenase activityGO:0038578.7HSD17B4, HADHA, HADHB

Products for genes affiliated with Thiolase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thiolase Deficiency

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet