3KTD
MCID: ALP077
MIFTS: 33

Alpha-Methylacetoacetic Aciduria (3KTD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Alpha-Methylacetoacetic Aciduria

Aliases & Descriptions for Alpha-Methylacetoacetic Aciduria:

Name: Alpha-Methylacetoacetic Aciduria 54 25 13
Beta-Ketothiolase Deficiency 12 25 56 52 14
3-Ketothiolase Deficiency 12 50 25 56 66
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 12 50 25
Alpha-Methylacetoaceticaciduria 12 50 66
3-Oxothiolase Deficiency 12 50 56
2-Methyl-3-Hydroxybutyricacidemia 12 50
Pseudo-Zellweger Syndrome 42 69
T2 Deficiency 25 56
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 25
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 56
Hepatic Methionine Adenosyltransferase Deficiency 69
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 56
Bifunctional Peroxisomal Enzyme Deficiency 69
Deficiency of Acetyl-Coa Acetyltransferase 69
Deficiency of Acetyl-Coa Acyltransferase 69
2-Alpha-Methyl-3-Hydroxybutyricacidemia 25
Alpha Methylacetoacetic Aciduria 56
Peroxisomal Thiolase Deficiency 12
3-Alpha-Ketothiolase Deficiency 25
3-Methylhydroxybutyric Acidemia 25
3-Alpha-Oxothiolase Deficiency 25
Beta Ketothiolase Deficiency 50
Β-Ketothiolase Deficiency 25
3-Alpha-Ktd Deficiency 25
Mat Deficiency 25
3ktd 66
Bkt 25

Characteristics:

Orphanet epidemiological data:

56
beta-ketothiolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent;

HPO:

32
alpha-methylacetoacetic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 203750
Disease Ontology 12 DOID:14723
SNOMED-CT 64 238067002
Orphanet 56 ORPHA134
ICD10 via Orphanet 34 E71.1
MedGen 40 C1536500
UMLS 69 C1533628

Summaries for Alpha-Methylacetoacetic Aciduria

NIH Rare Diseases : 50 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/superpathways are Metabolism and superpathway of tryptophan utilization.

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

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Alpha-Methylacetoacetic Aciduria:



Diseases related to Alpha-Methylacetoacetic Aciduria

Symptoms & Phenotypes for Alpha-Methylacetoacetic Aciduria

Symptoms by clinical synopsis from OMIM:

203750

Clinical features from OMIM:

203750

Human phenotypes related to Alpha-Methylacetoacetic Aciduria:

32
id Description HPO Frequency HPO Source Accession
1 vomiting 32 HP:0002013
2 intellectual disability 32 HP:0001249
3 dehydration 32 HP:0001944
4 episodic ketoacidosis 32 HP:0005974

UMLS symptoms related to Alpha-Methylacetoacetic Aciduria:


vomiting

Drugs & Therapeutics for Alpha-Methylacetoacetic Aciduria

Search Clinical Trials , NIH Clinical Center for Alpha-Methylacetoacetic Aciduria

Cochrane evidence based reviews: pseudo-zellweger syndrome

Genetic Tests for Alpha-Methylacetoacetic Aciduria

Anatomical Context for Alpha-Methylacetoacetic Aciduria

Publications for Alpha-Methylacetoacetic Aciduria

Articles related to Alpha-Methylacetoacetic Aciduria:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 ACAT1 p.Asn93Ser VAR_007498 rs120074145
2 ACAT1 p.Gly152Ala VAR_007499 rs762991875
3 ACAT1 p.Asn158Asp VAR_007500 rs148639841
4 ACAT1 p.Gly183Arg VAR_007501 rs120074141
5 ACAT1 p.Thr297Met VAR_007502
6 ACAT1 p.Ala301Pro VAR_007503
7 ACAT1 p.Ile312Thr VAR_007504 rs120074146
8 ACAT1 p.Ala333Pro VAR_007505 rs120074147
9 ACAT1 p.Gly379Val VAR_007506 rs120074143
10 ACAT1 p.Ala380Thr VAR_007507 rs120074140

ClinVar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 ACAT1 NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr) single nucleotide variant Pathogenic rs120074140 GRCh37 Chromosome 11, 108017061: 108017061
2 ACAT1 NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg) single nucleotide variant Pathogenic rs120074141 GRCh37 Chromosome 11, 108009736: 108009736
3 ACAT1 ACAT1, IVS8, G-T, +1 single nucleotide variant Pathogenic
4 ACAT1 ACAT1, IVS10, A-C, -2 single nucleotide variant Pathogenic
5 ACAT1 ACAT1, IVS10, G-C, -1 single nucleotide variant Pathogenic
6 ACAT1 ACAT1, IVS11, T-C, +2 single nucleotide variant Pathogenic
7 ACAT1 NM_000019.3(ACAT1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs120074142 GRCh37 Chromosome 11, 107992335: 107992335
8 ACAT1 NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val) single nucleotide variant Pathogenic rs120074143 GRCh37 Chromosome 11, 108017059: 108017059
9 ACAT1 NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs120074144 GRCh37 Chromosome 11, 108012415: 108012415
10 ACAT1 NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del) deletion Pathogenic rs387906282 GRCh37 Chromosome 11, 108016956: 108016958
11 ACAT1 NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs) duplication Pathogenic rs387906283 GRCh37 Chromosome 11, 108017006: 108017006
12 ACAT1 NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs120074145 GRCh37 Chromosome 11, 108004987: 108004987
13 ACAT1 NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr) single nucleotide variant Pathogenic rs120074146 GRCh37 Chromosome 11, 108013272: 108013272
14 ACAT1 NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs120074147 GRCh37 Chromosome 11, 108014766: 108014766
15 ACAT1 NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu) single nucleotide variant Pathogenic rs120074148 GRCh37 Chromosome 11, 108005967: 108005967
16 ACAT1 NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp) single nucleotide variant Pathogenic rs148639841 GRCh37 Chromosome 11, 108009661: 108009661
17 ACAT1 NM_000019.3(ACAT1): c.730+2T> C single nucleotide variant Pathogenic rs398123096 GRCh37 Chromosome 11, 108010944: 108010944
18 ACAT1 NM_000019.3(ACAT1): c.905delA (p.Lys302Argfs) deletion Pathogenic rs398123097 GRCh37 Chromosome 11, 108013242: 108013242
19 ACAT1 NM_000019.3(ACAT1): c.444_445delGG (p.Met148Ilefs) deletion Pathogenic rs727503795 GRCh37 Chromosome 11, 108009633: 108009634
20 ACAT1 NM_000019.3(ACAT1): c.826+1G> T single nucleotide variant Pathogenic rs727503796 GRCh37 Chromosome 11, 108012428: 108012428
21 ACAT1 NM_000019.3(ACAT1): c.1006-4_1006-1delinsAAA indel Pathogenic rs797044633 GRCh37 Chromosome 11, 108016925: 108016928
22 ACAT1 NM_000019.3(ACAT1): c.203G> T (p.Gly68Val) single nucleotide variant Likely pathogenic rs794727475 GRCh37 Chromosome 11, 108004629: 108004629
23 ACAT1 NM_000019.3(ACAT1): c.455G> C (p.Gly152Ala) single nucleotide variant Likely pathogenic rs762991875 GRCh37 Chromosome 11, 108009644: 108009644
24 ACAT1 NM_000019.3(ACAT1): c.473A> G (p.Asn158Ser) single nucleotide variant Pathogenic rs199524907 GRCh37 Chromosome 11, 108009662: 108009662
25 ACAT1 ACAT1, 1-BP DEL, 149C deletion Pathogenic
26 ACAT1 NM_000019.3(ACAT1): c.653C> T (p.Ser218Phe) single nucleotide variant Likely pathogenic rs879255505 GRCh38 Chromosome 11, 108140138: 108140138

Expression for Alpha-Methylacetoacetic Aciduria

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

Pathways for Alpha-Methylacetoacetic Aciduria

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 ACAA1 ACAD8 ACADVL ACAT1 HSD17B10 MAT1A
2
Show member pathways
11.61 ACAT1 HSD17B10
3
Show member pathways
11.1 ACAA1 ACADVL ACAT1
4
Show member pathways
11.05 ACAA1 HSD17B10
5
Show member pathways
11 ACAA1 ACAD8 ACAT1 HSD17B10
6
Show member pathways
10.98 ACADVL ACAT1

GO Terms for Alpha-Methylacetoacetic Aciduria

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 ACAD8 ACADVL ACAT1 HSD17B10
2 mitochondrial matrix GO:0005759 8.92 ACAD8 ACADVL ACAT1 HSD17B10

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

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.56 ACAA1 ACAD8 ACADVL HSD17B10
2 oxidation-reduction process GO:0055114 9.5 ACAD8 ACADVL HSD17B10
3 metabolic process GO:0008152 9.46 ACAA1 ACAD8 ACADVL ACAT1
4 fatty acid metabolic process GO:0006631 9.37 ACAA1 ACADVL
5 fatty acid beta-oxidation GO:0006635 9.13 ACAA1 ACADVL ACAT1
6 branched-chain amino acid catabolic process GO:0009083 8.8 ACAD8 ACAT1 HSD17B10

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.5 ACAD8 ACADVL HSD17B10
2 transferase activity, transferring acyl groups GO:0016746 9.37 ACAA1 ACAT1
3 flavin adenine dinucleotide binding GO:0050660 9.26 ACAD8 ACADVL
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.16 ACAD8 ACADVL
5 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 8.96 ACAA1 ACAT1
6 acyl-CoA dehydrogenase activity GO:0003995 8.62 ACAD8 ACADVL

Sources for Alpha-Methylacetoacetic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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