MCID: ALP077
MIFTS: 35

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 49 11 23
Beta-Ketothiolase Deficiency 10 23 47 12 51
3-Ketothiolase Deficiency 10 45 23 51 67
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 10 45 23
Alpha-Methylacetoaceticaciduria 10 45 67
3-Oxothiolase Deficiency 10 45 51
2-Methyl-3-Hydroxybutyricacidemia 10 45
Pseudo-Zellweger Syndrome 36 65
T2 Deficiency 23 51
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 23
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 51
Hepatic Methionine Adenosyltransferase Deficiency 65
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 51
Bifunctional Peroxisomal Enzyme Deficiency 65
 
Deficiency of Acetyl-Coa Acetyltransferase 65
Deficiency of Acetyl-Coa Acyltransferase 65
2-Alpha-Methyl-3-Hydroxybutyricacidemia 23
Alpha Methylacetoacetic Aciduria 51
3-Methylhydroxybutyric Acidemia 23
Peroxisomal Thiolase Deficiency 10
3-Alpha-Ketothiolase Deficiency 23
3-Alpha-Oxothiolase Deficiency 23
Beta Ketothiolase Deficiency 45
β-Ketothiolase Deficiency 23
3-Alpha-Ktd Deficiency 23
Mat Deficiency 23
3ktd 67
Bkt 23

Characteristics:

Orphanet epidemiological data:

51
beta-ketothiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent

HPO:

61
alpha-methylacetoacetic aciduria:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 203750
Disease Ontology10 DOID:14723
SNOMED-CT59 238067002
Orphanet51 134
ICD10 via Orphanet28 E71.1
MedGen34 C1536500
UMLS65 C1533628, C1536500, C0342869 C0268621, C0342870, more

Summaries for Alpha-Methylacetoacetic Aciduria

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NIH Rare Diseases:45 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 d-bifunctional protein deficiency, and has symptoms including episodic ketoacidosis, vomiting and dehydration. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are Tryptophan metabolism and Mitochondrial LC-Fatty Acid Beta-Oxidation. Related mouse phenotype liver/biliary system.

UniProtKB/Swiss-Prot:67 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:23 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:49 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 the top 20 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 episodic ketoacidosis HP:0005974
2 vomiting HP:0002013
3 dehydration HP:0001944
4 intellectual disability HP:0001249

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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MGI Mouse Phenotypes related to Alpha-Methylacetoacetic Aciduria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1ACAD8, ACADS, HMGCL, MAT1A

Publications for Alpha-Methylacetoacetic Aciduria

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Articles related to Alpha-Methylacetoacetic Aciduria:

idTitleAuthorsYear
1
Mapping domains of retroviral integrase responsible for viral DNA specificity and target site selection by analysis of chimeras between human immunodeficiency virus type 1 and visna virus integrases. (7637015)
1995

Variations for Alpha-Methylacetoacetic Aciduria

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

67
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 Alpha-Methylacetoacetic Aciduria:

5 (show all 25)
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.1138G> A (p.Ala380Thr)single nucleotide variantPathogenicrs120074140GRCh37Chr 11, 108017061: 108017061
9ACAT1NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg)single nucleotide variantPathogenicrs120074141GRCh37Chr 11, 108009736: 108009736
10ACAT1ACAT1, IVS8, G-T, +1single nucleotide variantPathogenic
11ACAT1ACAT1, IVS10, A-C, -2single nucleotide variantPathogenic
12ACAT1ACAT1, IVS10, G-C, -1single nucleotide variantPathogenic
13ACAT1ACAT1, IVS11, T-C, +2single nucleotide variantPathogenic
14ACAT1NM_000019.3(ACAT1): c.2T> A (p.Met1Lys)single nucleotide variantPathogenicrs120074142GRCh37Chr 11, 107992335: 107992335
15ACAT1NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val)single nucleotide variantPathogenicrs120074143GRCh37Chr 11, 108017059: 108017059
16ACAT1NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter)single nucleotide variantPathogenicrs120074144GRCh37Chr 11, 108012415: 108012415
17ACAT1NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del)deletionPathogenicrs387906282GRCh37Chr 11, 108016956: 108016958
18ACAT1NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs)duplicationPathogenicrs387906283GRCh37Chr 11, 108017006: 108017006
19ACAT1NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser)single nucleotide variantPathogenicrs120074145GRCh37Chr 11, 108004987: 108004987
20ACAT1NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr)single nucleotide variantPathogenicrs120074146GRCh37Chr 11, 108013272: 108013272
21ACAT1NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro)single nucleotide variantPathogenicrs120074147GRCh37Chr 11, 108014766: 108014766
22ACAT1NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu)single nucleotide variantPathogenicrs120074148GRCh37Chr 11, 108005967: 108005967
23ACAT1NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp)single nucleotide variantPathogenicrs148639841GRCh37Chr 11, 108009661: 108009661
24ACAT1NM_000019.3(ACAT1): c.730+2T> Csingle nucleotide variantPathogenicrs398123096GRCh37Chr 11, 108010944: 108010944
25ACAT1NM_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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Pathways related to Alpha-Methylacetoacetic Aciduria according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5ACAT1, HSD17B10
2
Show member pathways
9.2ACADS, ACAT1
3
Show member pathways
9.2ACADS, ACAT1
4
Show member pathways
8.8ACADS, ACAT1, MAT1A
5
Show member pathways
8.7ACADS, ACAT1, HMGCL
6
Show member pathways
8.7ACADS, ACAT1, HMGCL
7
Show member pathways
7.6ACAD8, ACADS, ACAT1, HMGCL, HSD17B10
8
Show member pathways
7.1ACAD8, ACADS, ACAT1, HMGCL, HSD17B10, MAT1A

GO Terms for genes affiliated with Alpha-Methylacetoacetic Aciduria

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

idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:00469509.8ACAT1, HMGCL
2response to starvationGO:00425949.8ACAT1, HMGCL
3liver developmentGO:00018899.7ACAT1, HMGCL
4fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.6ACAD8, ACADS
5oxidation-reduction processGO:00551149.0ACAD8, ACADS

Sources for Alpha-Methylacetoacetic Aciduria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet