MCID: ALP077
MIFTS: 24

Alpha-Methylacetoacetic Aciduria malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Alpha-Methylacetoacetic Aciduria

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NIH Rare Diseases:41 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 ketothiolase deficiency and medium chain 3-ketothiolase deficiency, and has symptoms including autosomal recessive inheritance, intellectual disability and dehydration. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (acetyl-CoA acetyltransferase 1).

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.

OMIM:45 This disorder, initially called alpha-methylacetoacetic aciduria, and more recently 3-oxothiolase deficiency, is an... (203750) more...

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

Aliases & Classifications for Alpha-Methylacetoacetic Aciduria

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Alpha-Methylacetoacetic Aciduria, Aliases & Descriptions:

Name: Alpha-Methylacetoacetic Aciduria 45 10 21
Beta-Ketothiolase Deficiency 9 21 11 43
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 9 41 21
3-Ketothiolase Deficiency 9 41 21
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 21 60
Ketoacidosis Due to Beta-Ketothiolase Deficiency 41 47
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 41 47
2-Methyl-3-Hydroxybutyricacidemia 9 41
Alpha-Methylacetoaceticaciduria 9 41
3-Oxothiolase Deficiency 9 41
Hepatic Methionine Adenosyltransferase Deficiency 60
Deficiency of Acetyl-Coa Acetyltransferase 60
 
2-Alpha-Methyl-3-Hydroxybutyricacidemia 21
3-Alpha-Ketothiolase Deficiency 21
3-Methylhydroxybutyric Acidemia 21
Peroxisomal Thiolase Deficiency 9
3-Alpha-Oxothiolase Deficiency 21
Beta Ketothiolase Deficiency 41
β-Ketothiolase Deficiency 21
Pseudo-Zellweger Syndrome 60
3-Alpha-Ktd Deficiency 21
Mat Deficiency 21
T2 Deficiency 21
Bkt 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
ketoacidosis due to beta-ketothiolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent


External Ids:

OMIM45 203750
Disease Ontology9 DOID:14723
MeSH33 C535818
SNOMED-CT55 238067002
Orphanet47 134
ICD10 via Orphanet26 E71.1

Related Diseases for Alpha-Methylacetoacetic Aciduria

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Diseases related to Alpha-Methylacetoacetic Aciduria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ketothiolase deficiency11.0
2medium chain 3-ketothiolase deficiency10.4
3zellweger syndrome10.3
4medium-chain acyl-coenzyme a dehydrogenase deficiency10.3
5thiolase deficiency10.3
6mucopolysaccharidoses10.3
7hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency10.2
8hypermethioninemia10.1

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 autosomal recessive inheritance HP:0000007
2 intellectual disability HP:0001249
3 dehydration HP:0001944
4 vomiting HP:0002013
5 episodic ketoacidosis HP:0005974

Drugs & Therapeutics for Alpha-Methylacetoacetic Aciduria

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Drug clinical trials:

Search ClinicalTrials for Alpha-Methylacetoacetic Aciduria

Search NIH Clinical Center for Alpha-Methylacetoacetic Aciduria

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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Variations for Alpha-Methylacetoacetic Aciduria

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

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

Clinvar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show all 15)
id Gene Variation 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 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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Compounds for genes affiliated with Alpha-Methylacetoacetic Aciduria

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GO Terms for genes affiliated with Alpha-Methylacetoacetic Aciduria

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Products for genes affiliated with Alpha-Methylacetoacetic Aciduria

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Sources for Alpha-Methylacetoacetic Aciduria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet