MCID: THL009
MIFTS: 28

Thiolase Deficiency malady

Rare diseases category

Aliases & Classifications for Thiolase Deficiency

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Aliases & Descriptions for Thiolase Deficiency:

Name: Thiolase Deficiency 42
 
Pseudo-Zellweger Syndrome 42 61


Classifications:



Summaries for Thiolase Deficiency

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MalaCards based summary: Thiolase Deficiency, also known as pseudo-zellweger syndrome, is related to alpha-methylacetoacetic aciduria and d-bifunctional protein deficiency. 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.

Related Diseases for Thiolase Deficiency

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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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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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MGI Mouse Phenotypes related to Thiolase Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1AMACR, HSD17B4, HADHA, HADHB

Publications for Thiolase Deficiency

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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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Search GEO for disease gene expression data for Thiolase Deficiency.

Pathways for genes affiliated with Thiolase Deficiency

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
9.7ACAT2, ACAT1
29.7ACAT2, ACAT1
3
Show member pathways
Synthesis and Degradation of Ketone Bodies36
ketolysis36
9.6ACAT1, HADHB
4
Show member pathways
9.4HADHA, HADHB
5
Show member pathways
fatty acid beta-oxidation I36
eicosapentaenoate biosynthesis II (metazoa)36
gamma-linolenate biosynthesis II (animals)36
fatty acid activation36
9.4HADHA, HADHB
6
Show member pathways
Cholesterol biosynthesis36
lanosterol biosynthesis36
zymosterol biosynthesis36
mevalonate pathway I36
epoxysqualene biosynthesis36
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)36
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)36
trans, trans-farnesyl diphosphate biosynthesis36
cholesterol biosynthesis I36
cholesterol biosynthesis III (via desmosterol)36
geranylgeranyldiphosphate biosynthesis36
9.2ACAT2, ACAT1, HADHB
7
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.2ACAT2, HADHB, ACAT1
8
Show member pathways
9.1AMACR, HSD17B4
9
Show member pathways
9.1ACAA1, HSD17B4
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)36
9.1ACAA1, HSD17B4
11
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.1ACAT2, ACAT1, HADHA
12
Show member pathways
9.1ACAT2, ACAT1, HADHA
139.1HADHA, ACAT1, ACAT2
14
Show member pathways
9.1ACAT1, ACAT2, HADHA
15
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
9.0ACAT1, HADHA, HADHB
16
Show member pathways
9.0HADHB, HADHA, ACAT1
17
Show member pathways
oleate biosynthesis II (animals)36
8.9ACAA1, HADHA, HADHB
18
Show member pathways
8.6ACAA1, AMACR, HSD17B4
198.6ACAA1, HSD17B4, AMACR
20
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis59
8.1HADHB, HADHA, ACAT1, ACAA1, ACAT2
21
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
8.1ACAT2, HADHB, HADHA, ACAT1, ACAA1
22
Show member pathways
6.7HSD17B4, HADHA, HADHB, ACAA1, ACAT1, AMACR

Compounds for genes affiliated with Thiolase Deficiency

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Sources:
24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Thiolase Deficiency according to GeneCards Suite gene sharing:

(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-coa44 2410.9HADHB, ACAA1
113a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA249.8ACAA1, HADHB
123a,7a-Dihydroxy-5b-cholestanoyl-CoA249.8HADHB, ACAA1
133-ketopalmitoyl-coa449.8HADHA, HADHB
14i-bop44 2810.8HADHB, HADHA
15acetoacetyl coa449.7HADHB, ACAT1, ACAT2
163-oxoacyl-coa449.7ACAA1, 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-coa44 2410.3HADHA, HADHB, ACAA1
23Lauroyl-CoA249.1HADHB, HADHA, ACAA1
24Coenzyme A24 1110.1ACAT2, ACAT1, HADHB, ACAA1
25Nonanoyl-CoA249.1ACAA1, HADHA, HADHB
262-methylbutyryl-coa44 2410.1ACAA1, HADHA, HADHB
272-Methylacetoacetyl-CoA249.1HADHB, HSD17B4, ACAA1
28Pentanoyl-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
39Isovaleryl-CoA248.6HADHB, HADHA, ACAA1
40acetyl-coa44 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-coa448.5HSD17B4, HADHB, AMACR, HADHA
47fatty acid448.3HADHB, 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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Cellular components related to Thiolase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:00165079.5HADHA, HADHB
2mitochondrial nucleoidGO:00426459.4HADHA, HADHB
3mitochondrial inner membraneGO:00057438.7HADHB, HADHA, ACAT1
4peroxisomal matrixGO:00057828.7ACAA1, AMACR, HSD17B4
5peroxisomeGO:00057778.5ACAA1, AMACR, HSD17B4
6mitochondrionGO:00057397.7HADHB, HADHA, HSD17B4, AMACR, ACAT1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cardiolipin acyl-chain remodelingGO:00359659.5HADHA, HADHB
2glycerophospholipid biosynthetic processGO:00464749.4HADHA, HADHB
3alpha-linolenic acid metabolic processGO:00361099.2HSD17B4, ACAA1
4unsaturated fatty acid metabolic processGO:00335599.1HSD17B4, ACAA1
5very long-chain fatty acid metabolic processGO:00000389.0ACAA1, HSD17B4
6bile acid biosynthetic processGO:00066998.8AMACR, HSD17B4
7fatty acid beta-oxidation using acyl-CoA oxidaseGO:00335408.8ACAA1, AMACR, HSD17B4
8bile acid metabolic processGO:00082068.8HSD17B4, AMACR, ACAA1
9fatty acid beta-oxidationGO:00066358.3HADHB, HADHA, HSD17B4, ACAA1
10cellular lipid metabolic processGO:00442557.4ACAA1, ACAT1, AMACR, HSD17B4, HADHA, HADHB
11small molecule metabolic processGO:00442817.3HADHB, HADHA, HSD17B4, AMACR, ACAT1, ACAA1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:00165099.5HADHB, HADHA
2acetyl-CoA C-acetyltransferase activityGO:00039859.5HADHA, ACAT2
3acetyl-CoA C-acyltransferase activityGO:00039889.5ACAA1, HADHB
4NAD bindingGO:00512879.4HADHA, HADHB
5enoyl-CoA hydratase activityGO:00043009.3HADHB, HADHA
6fatty-acyl-CoA bindingGO:00000629.1HADHA, HADHB
7long-chain-enoyl-CoA hydratase activityGO:00165088.8HSD17B4, HADHA, HADHB
83-hydroxyacyl-CoA dehydrogenase activityGO:00038578.7HSD17B4, HADHA, HADHB

Sources for Thiolase Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet