BKT
MCID: BTK001
MIFTS: 48

Beta-Ketothiolase Deficiency (BKT) malady

Metabolic diseases category

Summaries for Beta-Ketothiolase Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. this condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. signs and symptoms typically appear between the ages of 6 months and 24 months. affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. these episodes, which are called ketoacidotic attacks, sometimes lead to coma. ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. this condition is inherited in an autosomal recessive fashion and is caused by mutations in the acat1 gene. last updated: 8/3/2011

MalaCards: Beta-Ketothiolase Deficiency, also known as mitochondrial acetoacetyl-coa thiolase deficiency, is related to zellweger syndrome and ketothiolase deficiency. An important gene associated with Beta-Ketothiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Ketone body metabolism. The compounds n-acetylgalactosamine 6-sulfate and 2-methyl-3-hydroxybutyryl-coa have been mentioned in the context of this disorder.

Genetics Home Reference:21 Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

Wikipedia:63 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

Description from OMIM:46 203750

Aliases & Classifications for Beta-Ketothiolase Deficiency

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
alpha-methyl-acetoacetyl-coa thiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ketothiolase deficiency 8 21 10 44
mitochondrial acetoacetyl-coa thiolase deficiency 8 42 21
alpha-methylacetoacetic aciduria 9 21 46
3-ketothiolase deficiency 8 42 21
2-methyl-3-hydroxybutyricacidemia 8 42
alpha-methylacetoaceticaciduria 8 42
3-oxothiolase deficiency 8 42
mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated 21
alpha-methyl-acetoacetyl-coa thiolase deficiency 48
ketoacidosis due to beta-ketothiolase deficiency 48
deficiency of acetyl-coa acetyltransferase 60
2-alpha-methyl-3-hydroxybutyricacidemia 21
3-alpha-ketothiolase deficiency 21
peroxisomal thiolase deficiency 8
3-methylhydroxybutyric acidemia 21
3-alpha-oxothiolase deficiency 21
beta ketothiolase deficiency 42
β-ketothiolase deficiency 21
3-alpha-ktd deficiency 21
mat deficiency 21
t2 deficiency 21
bkt 21


External Ids:

Disease Ontology8 DOID:14723
OMIM46 203750
SNOMED-CT56 238067002
MeSH34 C535818
ICD10 via Orphanet26 E71.1

Related Diseases for Beta-Ketothiolase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Beta-Ketothiolase Deficiency:



Diseases related to beta-ketothiolase deficiency

Clinical Features for Beta-Ketothiolase Deficiency

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46OMIM
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Clinical features from OMIM:

203750

Clinical synopsis from OMIM:

203750

Drugs & Therapeutics for Beta-Ketothiolase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Beta-Ketothiolase Deficiency

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Anatomical Context for Beta-Ketothiolase Deficiency

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Animal Models for Beta-Ketothiolase Deficiency or affiliated genes

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Publications for Beta-Ketothiolase Deficiency

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50PubMed
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Articles related to Beta-Ketothiolase Deficiency:

(show all 27)
idTitleAuthorsYear
1
A treatable new cause of chorea: beta-ketothiolase deficiency. (23818432)
2013
2
Beta-ketothiolase deficiency and pregnancy. (23664791)
2013
3
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. (23958592)
2013
4
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. (23163837)
2012
5
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A&gt;C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. (23430882)
2012
6
Beta-ketothiolase deficiency brought with lethargy: case report. (21247997)
2011
7
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
8
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
9
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? (10604145)
1999
10
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
11
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
12
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
13
beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel. (8892029)
1996
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
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
20
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
21
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
22
A case of beta-ketothiolase deficiency. (6422156)
1983
23
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
24
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
25
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
26
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
27
Beta-ketothiolase deficiency as a cause of the &quot;ketotic hyperglycinemia syndrome&quot;. (4812006)
1974

Genetic Variations for Beta-Ketothiolase Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Beta-Ketothiolase Deficiency:

62
id Symbol AA change Variation ID SNP ID
1ACAT1p.Asn93SerVAR_007498
2ACAT1p.Gly152AlaVAR_007499
3ACAT1p.Asn158AspVAR_007500
4ACAT1p.Gly183ArgVAR_007501
5ACAT1p.Thr297MetVAR_007502
6ACAT1p.Ala301ProVAR_007503
7ACAT1p.Ile312ThrVAR_007504
8ACAT1p.Ala333ProVAR_007505
9ACAT1p.Gly379ValVAR_007506
10ACAT1p.Ala380ThrVAR_007507

Expression for genes affiliated with Beta-Ketothiolase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Beta-Ketothiolase Deficiency

Search GEO for disease gene expression data for Beta-Ketothiolase Deficiency.

Pathways for genes affiliated with Beta-Ketothiolase Deficiency

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ACAT2, ACAT1
2
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9.8ACAT1, ACAT2
3
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9.8ACAT1, ACAT2
4
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9.8ACAT2, ACAT1
5
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9.8ACAT1, ACAT2
69.8ACAT2, ACAT1
7
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9.8ACAT2, ACAT1
89.8ACAT2, ACAT1
9
Hide members
9.5ACAT2, ACAT1, HSD17B10
10
Hide members
9.5ACAT2, ACAT1, MAT1A
11
Hide members
9.1ACAA2, ACAA1
129.1HSD17B10, MAT1A, ACADSB, ACAT1
13
Hide members
8.8ACAA2, ACAA1, HSD17B10
148.3HMGCL, ACAA1, PEX2, PEX6
15
Hide members
7.9ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
16
Hide members
7.3HMGCL, ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
17
Hide members
7.0ACAT2, ACAT1, ACADSB, ACAA2, ACAA1, HMGCL

Compounds for genes affiliated with Beta-Ketothiolase Deficiency

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1n-acetylgalactosamine 6-sulfate4410.0GALNS, ARSH
22-methyl-3-hydroxybutyryl-coa44 2410.9ACADSB, HSD17B10
317beta-hydroxysteroid449.8ARSH, HSD17B10
4isoleucine449.7ACAT1, ACADSB, HSD17B10
5glucuronic acid449.6ARSH, GALNS
6acetoacetyl coa449.5ACAA2, ACAT1, ACAT2
7acyl-coa449.5HSD17B10, ACADSB, PEX6
82-methylbutyryl-coa44 249.9ACAA1, ACAA2, ACADSB
9octanoyl-coa44 249.8ACAA1, ACAA2, ACADSB
10(2E)-Tetradecenoyl-CoA248.8ACAA1, ACAA2, ACADSB
11(2E)-Octenoyl-CoA248.8ACAA1, ACAA2, ACADSB
12(2E)-Dodecenoyl-CoA248.8ACAA1, ACAA2, ACADSB
13(2E)-Decenoyl-CoA248.7ACAA1, ACAA2, ACADSB
14Coenzyme A11 249.7ACAT2, ACAT1, ACAA2, ACAA1
15(2E)-Hexadecenoyl-CoA248.7ACAA1, ACAA2, ACADSB
16stearoyl-coa44 249.6ACAA1, ACAA2, ACADSB
17lipid448.5HSD17B10, ARSH, MAT1A, ACAT2, PEX2
18acetyl-coa44 248.6ACAT2, ACAT1, ACADSB, ACAA2, ACAA1, HMGCL

GO Terms for genes affiliated with Beta-Ketothiolase Deficiency

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16Gene Ontology
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Cellular components related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.8PEX6, PEX2
2mitochondrial matrixGO:0057598.8ACAT1, ACADSB, HMGCL, HSD17B10
3mitochondrial inner membraneGO:0057438.7HSD17B10, HMGCL, ACAA2, ACAT1
4peroxisomeGO:0057778.4PEX6, ACAA1, HMGCL
5mitochondrionGO:0057397.8HSD17B10, HMGCL, ACAA2, ACADSB, ACAT1, ACAT2

Biological processes related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1peroxisome organizationGO:0070319.8PEX2, PEX6
2cellular ketone body metabolic processGO:0469509.8HMGCL, ACAT1
3ketone body biosynthetic processGO:0469519.7ACAT1, HMGCL
4branched-chain amino acid catabolic processGO:0090839.6HSD17B10, ACADSB, ACAT1
5response to starvationGO:0425949.5ACAT1, HMGCL
6very long-chain fatty acid metabolic processGO:0000389.4PEX2, ACAA1
7fatty acid metabolic processGO:0066319.4ACADSB, ACAA2
8cellular nitrogen compound metabolic processGO:0346419.3ACAT1, ACADSB, MAT1A, HSD17B10
9fatty acid beta-oxidationGO:0066359.0PEX2, ACAA1
10cellular lipid metabolic processGO:0442558.8ACAT1, ACAA1, HMGCL
11small molecule metabolic processGO:0442817.1ACAT1, ACADSB, ACAA1, HMGCL, MAT1A, ARSH

Molecular functions related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039889.1ACAA2, ACAA1

Products for genes affiliated with Beta-Ketothiolase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-Ketothiolase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet