BKT
MCID: BTK001
MIFTS: 47

Beta-Ketothiolase Deficiency (BKT) malady

Genetic diseases, Rare diseases categories

Summaries for Beta-Ketothiolase Deficiency

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Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.Ā 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 recessiveĀ 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 superpathway of cholesterol biosynthesis and Lysine degradation. The compounds isoleucine and n-acetylgalactosamine 6-sulfate have been mentioned in the context of this disorder.

Genetics Home Reference:22 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:66 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

Description from OMIM:48 203750

Aliases & Classifications for Beta-Ketothiolase Deficiency

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Sources:
9Disease Ontology, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 44NIH Rare Diseases, 10diseasecard, 48OMIM, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
ketoacidosis due to beta-ketothiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

beta-ketothiolase deficiency 9 22 11 46
mitochondrial acetoacetyl-coa thiolase deficiency 9 44 22
alpha-methylacetoacetic aciduria 10 22 48
3-ketothiolase deficiency 9 44 22
2-methyl-3-hydroxybutyricacidemia 9 44
alpha-methylacetoaceticaciduria 9 44
3-oxothiolase deficiency 9 44
mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated 22
ketoacidosis due to beta-ketothiolase deficiency 50
alpha-methyl-acetoacetyl-coa thiolase deficiency 50
deficiency of acetyl-coa acetyltransferase 63
2-alpha-methyl-3-hydroxybutyricacidemia 22
3-methylhydroxybutyric acidemia 22
3-alpha-ketothiolase deficiency 22
peroxisomal thiolase deficiency 9
3-alpha-oxothiolase deficiency 22
beta ketothiolase deficiency 44
Ī²-ketothiolase deficiency 22
3-alpha-ktd deficiency 22
mat deficiency 22
t2 deficiency 22
bkt 22


External Ids:

Disease Ontology9 DOID:14723
OMIM48 203750
SNOMED-CT59 238067002
MeSH36 C535818
ICD10 via Orphanet27 E71.1

Related Diseases for Beta-Ketothiolase Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Beta-Ketothiolase Deficiency:



Diseases related to beta-ketothiolase deficiency

Symptoms for Beta-Ketothiolase Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

203750

Clinical features from OMIM:

203750

Drugs & Therapeutics for Beta-Ketothiolase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Beta-Ketothiolase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Beta-Ketothiolase Deficiency

Search CenterWatch for Beta-Ketothiolase Deficiency

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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53PubMed
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Articles related to Beta-Ketothiolase Deficiency:

(show all 24)
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
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
8
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. (9700610)
1998
9
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. (9183994)
1997
10
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
11
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
12
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (7749408)
1995
13
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
14
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. (7520129)
1994
15
Beta-ketothiolase deficiency. A case report. (1509529)
1992
16
beta-Ketothiolase deficiency with favourable evolution. (3126364)
1987
17
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. (3435793)
1987
18
Two cases of beta-ketothiolase deficiency: a comparison. (6434866)
1984
19
A case of beta-ketothiolase deficiency. (6422156)
1983
20
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. (6133567)
1983
21
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
22
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. (7173255)
1982
23
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. (7299555)
1981
24
Beta-ketothiolase deficiency as a cause of the &quot;ketotic hyperglycinemia syndrome&quot;. (4812006)
1974

Variations for Beta-Ketothiolase Deficiency

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Beta-Ketothiolase Deficiency:

65
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

Clinvar genetic disease variations for Beta-Ketothiolase Deficiency:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1ACAT1NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr)single nucleotide variantPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
2ACAT1NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg)single nucleotide variantPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
3ACAT1ACAT1, IVS8, G-T, +1single nucleotide variantPathogenic
4ACAT1ACAT1, IVS10, A-C, -2single nucleotide variantPathogenic
5ACAT1ACAT1, IVS10, G-C, -1single nucleotide variantPathogenic
6ACAT1ACAT1, IVS11, T-C, +2single nucleotide variantPathogenic
7ACAT1NM_000019.3(ACAT1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
8ACAT1NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val)single nucleotide variantPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
9ACAT1NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter)single nucleotide variantPathogenicrs120074144GRCh37Chr 11, 108012415: 108012415
10ACAT1NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del)deletionPathogenicrs387906282GRCh37Chr 11, 108016956: 108016958
11ACAT1NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs)duplicationPathogenicrs387906283GRCh37Chr 11, 108017006: 108017007
12ACAT1NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser)single nucleotide variantPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
13ACAT1NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr)single nucleotide variantPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
14ACAT1NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro)single nucleotide variantPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
15ACAT1NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu)single nucleotide variantPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967

Expression for genes affiliated with Beta-Ketothiolase Deficiency

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2BioGPS, 16Gene 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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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson Reuters
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Pathways related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.7ACAT2, ACAT1
29.7ACAT2, ACAT1
39.7ACAT1, ACAT2
4
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
9.7ACAT1, ACAT2
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)39
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA39
tryptophan degradation39
glutaryl-CoA degradation39
serotonin degradation39
NAD de novo biosynthesis39
superpathway of melatonin degradation39
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde39
tryptophan utilization I39
melatonin degradation I39
9.7ACAT1, ACAT2
6
Show member pathways
fatty acid beta-oxidation I39
eicosapentaenoate biosynthesis II (metazoa)39
gamma-linolenate biosynthesis II (animals)39
fatty acid activation39
9.7ACAA2, HSD17B10
7
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.6MAT1A, ACAT1, HSD17B10
8
Show member pathways
Synthesis and Degradation of Ketone Bodies39
ketolysis39
9.6HMGCL, ACAT1
9
Show member pathways
9.4ACAT2, ACAT1, HSD17B10
10
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.4ACAT1, ACAT2, MAT1A
11
Show member pathways
oleate biosynthesis II (animals)39
9.1ACAA2, ACAA1
12
Show member pathways
9.1ACAT1, ACAT2, HMGCL
13
Show member pathways
mitochondrial L-carnitine shuttle pathway39
Saturated fatty acid biosynthesis61
8.4ACAT1, ACAA1, ACAT2, ACAA2
148.2HMGCL, ACAA1, PEX6, PEX2
15
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
7.5HMGCL, HSD17B10, ACAT1, ACAA1, ACAT2, ACAA2
16
Show member pathways
6.3HSD17B10, ACAT1, ACAA1, ACAT2, ACAA2, MAT1A

Compounds for genes affiliated with Beta-Ketothiolase Deficiency

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1isoleucine469.9ACAT1, HSD17B10
2n-acetylgalactosamine 6-sulfate469.9GALNS, ARSH
317beta-hydroxysteroid469.8HSD17B10, ARSH
4glucuronic acid469.7ARSH, GALNS
5acetoacetyl coa469.6ACAT1, ACAT2, ACAA2
6CoA-omega-COOH-dinor-LTE4259.5ACAA1, ACAA2
77'-carboxy-gama-tocotrienol259.5ACAA1, ACAA2
87'-carboxy-alpha-tocotrienol259.5ACAA1, ACAA2
95'-Carboxy-gama-chromanol259.5ACAA1, ACAA2
105'-Carboxy-alpha-chromanol259.5ACAA1, ACAA2
11Chenodeoxyglycocholoyl-CoA259.4ACAA1, ACAA2
12Chenodeoxycholoyl-CoA259.4ACAA1, ACAA2
133a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA259.4ACAA1, ACAA2
143a,7a-Dihydroxy-5b-cholestanoyl-CoA259.4ACAA1, ACAA2
15Choloyl-CoA259.4ACAA2, ACAA1
163-Oxotetradecanoyl-CoA259.4ACAA1, ACAA2
173-Oxododecanoyl-CoA259.4ACAA1, ACAA2
183-Oxodecanoyl-CoA259.3ACAA2, ACAA1
19glucosamine46 25 1211.3ARSH, GALNS
20Tetradecanoyl-CoA259.3ACAA1, ACAA2
212-Methylacetoacetyl-CoA259.2HSD17B10, ACAA1, ACAA2
223-Oxooctanoyl-CoA259.2HSD17B10, ACAA1, ACAA2
233-Oxohexadecanoyl-CoA259.2HSD17B10, ACAA1, ACAA2
24Heptanoyl-CoA259.0ACAA2, ACAA1, HSD17B10
25lipid468.8ARSH, MAT1A, ACAT2, HSD17B10, PEX2
263-Oxohexanoyl-CoA258.8ACAT1, ACAA1, ACAT2, ACAA2
27Coenzyme A25 129.7ACAT1, ACAA1, ACAT2, ACAA2
28cysteine468.6ARSH, GALNS, HMGCL, MAT1A
29Acetoacetyl-CoA258.5ACAA2, ACAT2, ACAA1, ACAT1, HSD17B10
30acetyl-coa46 259.1ACAT1, ACAA1, ACAT2, ACAA2, HMGCL

GO Terms for genes affiliated with Beta-Ketothiolase Deficiency

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17Gene Ontology
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Cellular components related to Beta-Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.4PEX6, PEX2
2mitochondrial matrixGO:0057599.2HSD17B10, ACAT1, HMGCL
3mitochondrial inner membraneGO:0057438.8HMGCL, ACAA2, ACAT1, HSD17B10
4mitochondrionGO:0057398.7HMGCL, ACAA2, ACAT1, HSD17B10
5peroxisomeGO:0057778.6HMGCL, ACAA1, PEX6

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1branched-chain amino acid catabolic processGO:00908310.0ACAT1, HSD17B10
2peroxisome organizationGO:0070319.8PEX6, PEX2
3cellular ketone body metabolic processGO:0469509.8ACAT1, HMGCL
4ketone body biosynthetic processGO:0469519.8HMGCL, ACAT1
5cellular nitrogen compound metabolic processGO:0346419.6HSD17B10, ACAT1, MAT1A
6liver developmentGO:0018899.6HMGCL, ACAT1
7response to starvationGO:0425949.5HMGCL, ACAT1
8very long-chain fatty acid metabolic processGO:0000389.5ACAA1, PEX2
9fatty acid beta-oxidationGO:0066359.0ACAA1, PEX2
10cellular lipid metabolic processGO:0442558.9ACAT1, ACAA1, HMGCL
11small molecule metabolic processGO:0442817.5ARSH, GALNS, HMGCL, MAT1A, ACAA1, ACAT1

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

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039888.8ACAA2, ACAA1
2metal ion bindingGO:0468728.4ARSH, GALNS, HMGCL, MAT1A, ACAT1

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet