MCID: ALP077
MIFTS: 34

Alpha-Methylacetoacetic Aciduria 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 50 24 12
Beta-Ketothiolase Deficiency 11 24 13 52 48
3-Ketothiolase Deficiency 11 46 24 52 68
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 11 46 24
Alpha-Methylacetoaceticaciduria 11 46 68
3-Oxothiolase Deficiency 11 46 52
2-Methyl-3-Hydroxybutyricacidemia 11 46
Pseudo-Zellweger Syndrome 37 66
T2 Deficiency 24 52
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 24
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 52
Hepatic Methionine Adenosyltransferase Deficiency 66
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 52
Deficiency of Acetyl-Coa Acetyltransferase 66
 
Deficiency of Acetyl-Coa Acyltransferase 66
2-Alpha-Methyl-3-Hydroxybutyricacidemia 24
Alpha Methylacetoacetic Aciduria 52
3-Alpha-Ketothiolase Deficiency 24
Peroxisomal Thiolase Deficiency 11
3-Methylhydroxybutyric Acidemia 24
3-Alpha-Oxothiolase Deficiency 24
Beta Ketothiolase Deficiency 46
β-Ketothiolase Deficiency 24
3-Alpha-Ktd Deficiency 24
Mat Deficiency 24
3ktd 68
Bkt 24

Characteristics:

Orphanet epidemiological data:

52
beta-ketothiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent

HPO:

62
alpha-methylacetoacetic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 203750
Disease Ontology11 DOID:14723
SNOMED-CT60 238067002
Orphanet52 ORPHA134
ICD10 via Orphanet29 E71.1
MedGen35 C1536500

Summaries for Alpha-Methylacetoacetic Aciduria

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NIH Rare Diseases:46 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, acetonaemic vomiting and intellectual disability. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are Propanoate metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism... (203750) more...

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 for Alpha-Methylacetoacetic Aciduria

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Symptoms by clinical synopsis from OMIM:

203750

Clinical features from OMIM:

203750

HPO human phenotypes related to Alpha-Methylacetoacetic Aciduria:

id Description Frequency HPO Source Accession
1 intellectual disability HP:0001249
2 dehydration HP:0001944
3 vomiting HP:0002013
4 episodic ketoacidosis HP:0005974

UMLS symptoms related to Alpha-Methylacetoacetic Aciduria:


vomiting, acetonaemic 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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Animal Models for Alpha-Methylacetoacetic Aciduria or affiliated genes

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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:

68
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> Tsingle nucleotide variantPathogenicrs727503796GRCh37Chr 11, 108012428: 108012428
3ACAT1NM_000019.3(ACAT1): c.1006-4_1006-1delinsAAAindelPathogenicrs797044633GRCh37Chr 11, 108016925: 108016928
4ACAT1NM_000019.3(ACAT1): c.203G> T (p.Gly68Val)single nucleotide variantLikely pathogenicrs794727475GRCh37Chr 11, 108004629: 108004629
5ACAT1NM_000019.3(ACAT1): c.455G> C (p.Gly152Ala)single nucleotide variantLikely pathogenicrs762991875GRCh37Chr 11, 108009644: 108009644
6ACAT1NM_000019.3(ACAT1): c.473A> G (p.Asn158Ser)single nucleotide variantPathogenicrs199524907GRCh37Chr 11, 108009662: 108009662
7ACAT1ACAT1, 1-BP DEL, 149CdeletionPathogenic
8ACAT1NM_000019.3(ACAT1): c.653C> T (p.Ser218Phe)single nucleotide variantLikely pathogenicrs879255505GRCh38Chr 11, 108140138: 108140138
9ACAT1NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr)single nucleotide variantPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
10ACAT1NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg)single nucleotide variantPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
11ACAT1ACAT1, IVS8, G-T, +1single nucleotide variantPathogenic
12ACAT1ACAT1, IVS10, A-C, -2single nucleotide variantPathogenic
13ACAT1ACAT1, IVS10, G-C, -1single nucleotide variantPathogenic
14ACAT1ACAT1, IVS11, T-C, +2single nucleotide variantPathogenic
15ACAT1NM_000019.3(ACAT1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
16ACAT1NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val)single nucleotide variantPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
17ACAT1NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter)single nucleotide variantPathogenicrs120074144GRCh37Chr 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)single nucleotide variantPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
21ACAT1NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr)single nucleotide variantPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
22ACAT1NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro)single nucleotide variantPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
23ACAT1NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu)single nucleotide variantPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967
24ACAT1NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp)single nucleotide variantPathogenicrs148639841GRCh37Chr 11, 108009661: 108009661
25ACAT1NM_000019.3(ACAT1): c.730+2T> Csingle nucleotide variantPathogenicrs398123096GRCh37Chr 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
1peroxisomeGO:00057779.3ACAA1, ACADM
2mitochondrial matrixGO:00057598.7ACAD8, ACADM, ACAT1, HSD17B10
3mitochondrionGO:00057398.5ACAD8, ACADM, ACAT1, HSD17B10

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.9ACAD8, ACADM
2lipid homeostasisGO:00550889.7ACAD8, ACADM
3liver developmentGO:00018899.5ACADM, ACAT1
4lipid metabolic processGO:00066299.4ACAD8, HSD17B10
5fatty acid beta-oxidationGO:00066359.3ACAA1, ACADM
6response to starvationGO:00425949.2ACADM, ACAT1
7branched-chain amino acid catabolic processGO:00090838.9ACAD8, ACAT1, HSD17B10

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

idNameGO IDScoreTop Affiliating Genes
1acyl-CoA dehydrogenase activityGO:00039959.9ACAD8, ACADM
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.8ACAD8, ACADM
3fatty-acyl-CoA bindingGO:00000629.7ACAD8, ACADM
4flavin adenine dinucleotide bindingGO:00506609.3ACAD8, ACADM
5electron carrier activityGO:00090559.0ACAD8, ACADM

Sources for Alpha-Methylacetoacetic Aciduria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet