3KTD
MCID: ALP077
MIFTS: 33

Alpha-Methylacetoacetic Aciduria (3KTD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Alpha-Methylacetoacetic Aciduria

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Aliases & Descriptions for Alpha-Methylacetoacetic Aciduria:

Name: Alpha-Methylacetoacetic Aciduria 52 25 12
Beta-Ketothiolase Deficiency 11 25 54 50 13
3-Ketothiolase Deficiency 11 48 25 54 70
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 11 48 25
Alpha-Methylacetoaceticaciduria 11 48 70
3-Oxothiolase Deficiency 11 48 54
2-Methyl-3-Hydroxybutyricacidemia 11 48
Pseudo-Zellweger Syndrome 39 68
T2 Deficiency 25 54
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 25
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 54
Hepatic Methionine Adenosyltransferase Deficiency 68
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 54
Deficiency of Acetyl-Coa Acetyltransferase 68
 
Bifunctional Peroxisomal Enzyme Deficiency 68
Deficiency of Acetyl-Coa Acyltransferase 68
2-Alpha-Methyl-3-Hydroxybutyricacidemia 25
Alpha Methylacetoacetic Aciduria 54
3-Alpha-Ketothiolase Deficiency 25
Peroxisomal Thiolase Deficiency 11
3-Methylhydroxybutyric Acidemia 25
3-Alpha-Oxothiolase Deficiency 25
Beta Ketothiolase Deficiency 48
β-Ketothiolase Deficiency 25
3-Alpha-Ktd Deficiency 25
Mat Deficiency 25
3ktd 70
Bkt 25

Characteristics:

Orphanet epidemiological data:

54
beta-ketothiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent

HPO:

64
alpha-methylacetoacetic aciduria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 203750
Disease Ontology11 DOID:14723
SNOMED-CT62 238067002
Orphanet54 ORPHA134
ICD10 via Orphanet31 E71.1
MedGen37 C1536500

Summaries for Alpha-Methylacetoacetic Aciduria

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NIH Rare Diseases:48 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 based summary: Alpha-Methylacetoacetic Aciduria, also known as beta-ketothiolase deficiency, is related to medium chain 3-ketothiolase deficiency and ketothiolase deficiency, and has symptoms including vomiting, intellectual disability and dehydration. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are superpathway of tryptophan utilization and Mitochondrial LC-Fatty Acid Beta-Oxidation.

Genetics Home Reference:25 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.

OMIM:52 Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism... (203750) more...

UniProtKB/Swiss-Prot:70 3-ketothiolase deficiency: An inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2- methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.

Related Diseases for Alpha-Methylacetoacetic Aciduria

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Graphical network of diseases related to Alpha-Methylacetoacetic Aciduria:



Diseases related to alpha-methylacetoacetic aciduria

Symptoms & Phenotypes for Alpha-Methylacetoacetic Aciduria

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Symptoms by clinical synopsis from OMIM:

203750

Clinical features from OMIM:

203750

Human phenotypes related to Alpha-Methylacetoacetic Aciduria:

 64
id Description HPO Frequency HPO Source Accession
1 intellectual disability64 HP:0001249
2 dehydration64 HP:0001944
3 vomiting64 HP:0002013
4 episodic ketoacidosis64 HP:0005974

UMLS symptoms related to Alpha-Methylacetoacetic Aciduria:


vomiting

Drugs & Therapeutics for Alpha-Methylacetoacetic Aciduria

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Alpha-Methylacetoacetic Aciduria


Cochrane evidence based reviews: pseudo-zellweger syndrome

Genetic Tests for Alpha-Methylacetoacetic Aciduria

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Anatomical Context for Alpha-Methylacetoacetic Aciduria

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Publications for Alpha-Methylacetoacetic Aciduria

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Articles related to Alpha-Methylacetoacetic Aciduria:

idTitleAuthorsYear
1
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. (4434646)
1974

Variations for Alpha-Methylacetoacetic Aciduria

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UniProtKB/Swiss-Prot genetic disease variations for Alpha-Methylacetoacetic Aciduria:

70
id Symbol AA change Variation ID SNP ID
1ACAT1p.Asn93SerVAR_007498rs120074145
2ACAT1p.Gly152AlaVAR_007499rs762991875
3ACAT1p.Asn158AspVAR_007500rs148639841
4ACAT1p.Gly183ArgVAR_007501rs120074141
5ACAT1p.Thr297MetVAR_007502
6ACAT1p.Ala301ProVAR_007503
7ACAT1p.Ile312ThrVAR_007504rs120074146
8ACAT1p.Ala333ProVAR_007505rs120074147
9ACAT1p.Gly379ValVAR_007506rs120074143
10ACAT1p.Ala380ThrVAR_007507rs120074140

Clinvar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1ACAT1NM_ 000019.3(ACAT1): c.444_ 445delGG (p.Met148Ilefs)deletionPathogenicrs727503795GRCh37Chr 11, 108009633: 108009634
2ACAT1NM_ 000019.3(ACAT1): c.826+1G> TSNVPathogenicrs727503796GRCh37Chr 11, 108012428: 108012428
3ACAT1NM_ 000019.3(ACAT1): c.1006-4_ 1006-1delinsAAAindelPathogenicrs797044633GRCh37Chr 11, 108016925: 108016928
4ACAT1NM_ 000019.3(ACAT1): c.203G> T (p.Gly68Val)SNVLikely pathogenicrs794727475GRCh37Chr 11, 108004629: 108004629
5ACAT1NM_ 000019.3(ACAT1): c.455G> C (p.Gly152Ala)SNVLikely pathogenicrs762991875GRCh37Chr 11, 108009644: 108009644
6ACAT1NM_ 000019.3(ACAT1): c.473A> G (p.Asn158Ser)SNVPathogenicrs199524907GRCh37Chr 11, 108009662: 108009662
7ACAT1ACAT1, 1-BP DEL, 149CdeletionPathogenic
8ACAT1NM_ 000019.3(ACAT1): c.653C> T (p.Ser218Phe)SNVLikely pathogenicrs879255505GRCh38Chr 11, 108140138: 108140138
9ACAT1NM_ 000019.3(ACAT1): c.1138G> A (p.Ala380Thr)SNVPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
10ACAT1NM_ 000019.3(ACAT1): c.547G> A (p.Gly183Arg)SNVPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
11ACAT1ACAT1, IVS8, G-T, +1SNVPathogenic
12ACAT1ACAT1, IVS10, A-C, -2SNVPathogenic
13ACAT1ACAT1, IVS10, G-C, -1SNVPathogenic
14ACAT1ACAT1, IVS11, T-C, +2SNVPathogenic
15ACAT1NM_ 000019.3(ACAT1): c.2T> A (p.Met1Lys)SNVPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
16ACAT1NM_ 000019.3(ACAT1): c.1136G> T (p.Gly379Val)SNVPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
17ACAT1NM_ 000019.3(ACAT1): c.814C> T (p.Gln272Ter)SNVPathogenicrs120074144GRCh37Chr 11, 108012415: 108012415
18ACAT1NM_ 000019.3(ACAT1): c.1033_ 1035delGAA (p.Glu345del)deletionPathogenicrs387906282GRCh37Chr 11, 108016956: 108016958
19ACAT1NM_ 000019.3(ACAT1): c.1083dupA (p.Ala362Serfs)duplicationPathogenicrs387906283GRCh37Chr 11, 108017006: 108017006
20ACAT1NM_ 000019.3(ACAT1): c.278A> G (p.Asn93Ser)SNVPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
21ACAT1NM_ 000019.3(ACAT1): c.935T> C (p.Ile312Thr)SNVPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
22ACAT1NM_ 000019.3(ACAT1): c.997G> C (p.Ala333Pro)SNVPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
23ACAT1NM_ 000019.3(ACAT1): c.433C> G (p.Gln145Glu)SNVPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967
24ACAT1NM_ 000019.3(ACAT1): c.472A> G (p.Asn158Asp)SNVPathogenicrs148639841GRCh37Chr 11, 108009661: 108009661
25ACAT1NM_ 000019.3(ACAT1): c.730+2T> CSNVPathogenicrs398123096GRCh37Chr 11, 108010944: 108010944
26ACAT1NM_ 000019.3(ACAT1): c.905delA (p.Lys302Argfs)deletionPathogenicrs398123097GRCh37Chr 11, 108013242: 108013242

Expression for genes affiliated with Alpha-Methylacetoacetic Aciduria

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Search GEO for disease gene expression data for Alpha-Methylacetoacetic Aciduria.

Pathways for genes affiliated with Alpha-Methylacetoacetic Aciduria

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GO Terms for genes affiliated with Alpha-Methylacetoacetic Aciduria

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Cellular components related to Alpha-Methylacetoacetic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.0ACAD8, ACADVL, ACAT1, HSD17B10
2mitochondrionGO:00057398.3ACAD8, ACADVL, ACAT1, HSD17B10

Biological processes related to Alpha-Methylacetoacetic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid metabolic processGO:000663110.1ACAA1, ACADVL
2fatty acid beta-oxidationGO:00066359.7ACAA1, ACADVL, ACAT1
3branched-chain amino acid catabolic processGO:00090839.5ACAD8, ACAT1, HSD17B10
4metabolic processGO:00081528.8ACAA1, ACAD8, ACADVL, ACAT1
5lipid metabolic processGO:00066298.8ACAA1, ACAD8, ACADVL, HSD17B10
6oxidation-reduction processGO:00551148.7ACAD8, ACADVL, HSD17B10

Molecular functions related to Alpha-Methylacetoacetic Aciduria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:00039959.8ACAD8, ACADVL
2flavin adenine dinucleotide bindingGO:00506609.8ACAD8, ACADVL
3transferase activity, transferring acyl groupsGO:00167469.8ACAA1, ACAT1
4oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.7ACAD8, ACADVL
5transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167479.4ACAA1, ACAT1
6oxidoreductase activityGO:00164919.3ACAD8, ACADVL, HSD17B10

Sources for Alpha-Methylacetoacetic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet