3KTD
MCID: ALP077
MIFTS: 52

Alpha-Methylacetoacetic Aciduria (3KTD)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Alpha-Methylacetoacetic Aciduria

MalaCards integrated aliases for Alpha-Methylacetoacetic Aciduria:

Name: Alpha-Methylacetoacetic Aciduria 57 43 36 13
Beta-Ketothiolase Deficiency 57 12 43 58 54 15
3-Ketothiolase Deficiency 57 12 20 43 58 73
3-Oxothiolase Deficiency 57 12 20 43 58
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 57 12 20 43
Alpha-Methylacetoaceticaciduria 12 20 73 6
2-Methyl-3-Hydroxybutyricacidemia 12 20 43
Mat Deficiency 57 74 43
T2 Deficiency 57 43 58
Beta Ketothiolase Deficiency 74 20
Pseudo-Zellweger Syndrome 44 71
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 43
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 58
2-Methylacetoacetyl-Coenzyme a Thiolase Deficiency 43
Hepatic Methionine Adenosyltransferase Deficiency 71
Methylacetoacetyl-Coenzyme a Thiolase Deficiency 43
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 58
Bifunctional Peroxisomal Enzyme Deficiency 71
Deficiency of Acetyl-Coa Acetyltransferase 71
Deficiency of Acetyl-Coa Acyltransferase 71
2-Methyl-3-Hydroxybutyric Acidemia 57
Aciduria, Alpha-Methylacetoacetic 39
Alpha Methylacetoacetic Aciduria 58
Peroxisomal Thiolase Deficiency 12
3-Alpha-Oxothiolase Deficiency 43
Β-Ketothiolase Deficiency 43
3-Ktd Deficiency 57
3ktd 73

Characteristics:

Orphanet epidemiological data:

58
beta-ketothiolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at 5-24 months
infections may precipitate ketotic episodes
patients with t2 deficiency and urinary abnormalities may be asymptomatic


HPO:

31
alpha-methylacetoacetic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Alpha-Methylacetoacetic Aciduria

GARD : 20 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 and 24 months. Affected children experience intermittent episodes of ketoacidosis, characterized by vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally, seizures. In severe cases, these episodes can lead to coma. Metabolic stroke is another finding that has been increasingly reported in children with this condition. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. Beta ketothiolase deficiency is inherited in an autosomal recessive fashion and is caused by pathogenic variants (mutations) in the ACAT1 gene. Treatment involves managing acute crises with intravenous (IV) fluids, glucose, and electrolytes along with bicarbonate. Long-term management involves eating frequently, following a reduced-protein diet, avoidance of high-fat foods, and, in some cases, carnitine supplementation.

MalaCards based summary : Alpha-Methylacetoacetic Aciduria, also known as beta-ketothiolase deficiency, is related to d-bifunctional protein deficiency and methionine adenosyltransferase i/iii deficiency, and has symptoms including recurrent ketoacidotic attacks in infancy marked by vomitting and vomiting. An important gene associated with Alpha-Methylacetoacetic Aciduria is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Synthesis and degradation of ketone bodies. Affiliated tissues include brain, cortex and liver, and related phenotypes are vomiting and fever

Disease Ontology : 12 An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has material basis in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.

MedlinePlus Genetics : 43 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.The signs and symptoms of beta-ketothiolase deficiency 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 or periods without food (fasting), and increased intake of protein-rich foods can also play a role.

OMIM® : 57 Alpha-methylacetoacetic aciduria, also known as 3-ketothiolase deficiency, is an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone. (203750) (Updated 05-Mar-2021)

KEGG : 36 Alpha-methylacetoacetic aciduria/3-Ketothiolase deficiency is an autosomal recessive error of isoleucine and ketone body catabolism caused by a deficiency of mitochondrial acetoacetyl-CoA thiolase. The patients present with intermittent ketoacidotic episodes and urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine.

UniProtKB/Swiss-Prot : 73 3-ketothiolase deficiency: An autosomal recessive 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.

Wikipedia : 74 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

Related Diseases for Alpha-Methylacetoacetic Aciduria

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 d-bifunctional protein deficiency 11.6
2 methionine adenosyltransferase i/iii deficiency 11.3
3 hypermethioninemia 11.0
4 metabolic acidosis 10.4
5 diarrhea 10.3
6 hyperglycemia 10.3
7 ocular motor apraxia 10.2
8 inherited metabolic disorder 10.2
9 hypoglycemia 10.2
10 methionine adenosyltransferase deficiency 10.2
11 encephalopathy 10.2
12 autosomal recessive disease 10.2
13 combined oxidative phosphorylation deficiency 30 10.2 HSD17B10 FSIP1
14 organic acidemia 10.1
15 common cold 10.1
16 dystonia 10.1
17 atrial standstill 1 10.1
18 stroke, ischemic 10.1
19 abdominal obesity-metabolic syndrome 1 10.1
20 propionic acidemia 10.1
21 chorea, childhood-onset, with psychomotor retardation 10.1
22 mucopolysaccharidosis-plus syndrome 10.1
23 mucopolysaccharidosis iv 10.1
24 choreatic disease 10.1
25 toxic encephalopathy 10.1
26 zellweger syndrome 10.1
27 morquio syndrome 10.1
28 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.1
29 mitochondrial disorders 10.1
30 2-methylacetoacetyl coa thiolase deficiency 10.1
31 hypotonia 10.1
32 mucopolysaccharidoses 10.1
33 inflammatory myopathy with abundant macrophages 10.1
34 taqi polymorphism 10.0
35 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HSD17B10 HADH
36 peroxisomal disease 10.0
37 colpocephaly 10.0
38 acute laryngitis 10.0 ELMOD2 ELMOD1
39 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 HSD17B10 HADH
40 schimmelpenning-feuerstein-mims syndrome 9.8 ACAT2 ACAA2
41 syndromic x-linked intellectual disability type 10 9.8 HSD17B10 HADH FSIP1
42 reye syndrome 9.8 HMGCL ETFDH
43 biotinidase deficiency 9.8 HIBCH HADH
44 acyl-coa dehydrogenase, short-chain, deficiency of 9.7 HADH ETFDH
45 glutaric acidemia i 9.7 HADH ETFDH
46 carnitine palmitoyltransferase ii deficiency, infantile 9.7 HADH ETFDH
47 acyl-coa dehydrogenase, very long-chain, deficiency of 9.7 HADH ETFDH
48 acyl-coa dehydrogenase, medium-chain, deficiency of 9.7 HADH ETFDH
49 carnitine deficiency, systemic primary 9.6 HADH ETFDH
50 methylmalonic acidemia 9.6 HMGCL HIBCH ETFDH

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



Diseases related to Alpha-Methylacetoacetic Aciduria

Symptoms & Phenotypes for Alpha-Methylacetoacetic Aciduria

Human phenotypes related to Alpha-Methylacetoacetic Aciduria:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
2 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
3 hyperuricemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002149
4 metabolic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001942
5 tachypnea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002789
6 ketonuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002919
7 dehydration 58 31 frequent (33%) Frequent (79-30%) HP:0001944
8 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
9 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
10 coma 58 31 frequent (33%) Frequent (79-30%) HP:0001259
11 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
12 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
13 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
14 excessive daytime somnolence 58 31 frequent (33%) Frequent (79-30%) HP:0001262
15 ketoacidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001993
16 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
17 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
18 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
19 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
20 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
21 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
22 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
23 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
24 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
25 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
26 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
27 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
28 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
29 oral aversion 58 31 occasional (7.5%) Occasional (29-5%) HP:0012523
30 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
31 hyperglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003074
32 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
33 extrapyramidal dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007308
34 abnormal metabolic brain imaging by mrs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012705
35 body odor 58 31 occasional (7.5%) Occasional (29-5%) HP:0500001
36 seizure 31 occasional (7.5%) HP:0001250
37 hypotonia 31 occasional (7.5%) HP:0001252
38 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
39 intellectual disability, severe 58 31 very rare (1%) Very rare (<4-1%) HP:0010864
40 intellectual disability 31 HP:0001249
41 seizures 58 Occasional (29-5%)
42 muscular hypotonia 58 Occasional (29-5%)
43 reduced consciousness/confusion 58 Frequent (79-30%)
44 abnormality of higher mental function 58 Very frequent (99-80%)
45 acidosis 58 Very frequent (99-80%)
46 episodic ketoacidosis 31 HP:0005974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Metabolic Features:
dehydration
ketoacidosis, episodic

Neurologic Central Nervous System:
mental retardation (in some cases)

Abdomen Gastrointestinal:
vomiting

Laboratory Abnormalities:
increased urinary 2-methyl-3-hydroxybutyric acid
increased urinary 2-methylacetoacetic acid
increased urinary tiglylglycine
increased urinary 2-butanone

Clinical features from OMIM®:

203750 (Updated 05-Mar-2021)

Symptoms:

12
  • recurrent ketoacidotic attacks in infancy marked by vomitting

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

MalaCards organs/tissues related to Alpha-Methylacetoacetic Aciduria:

40
Brain, Cortex, Liver

Publications for Alpha-Methylacetoacetic Aciduria

Articles related to Alpha-Methylacetoacetic Aciduria:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure. 57 6 54
17236799 2007
2
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. 61 6 57
9700610 1998
3
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. 6 57
8103405 1993
4
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. 6 57
1715688 1991
5
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. 57 6
4690360 1973
6
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. 6 61
28220263 2017
7
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. 6 61
27928777 2017
8
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. 6 61
27748876 2016
9
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. 61 6
23430882 2012
10
A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene. 6 54
18511318 2008
11
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. 6 54
15128923 2004
12
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. 6 54
11914035 2002
13
A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene. 6 54
11161837 2001
14
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 6 54
9744475 1998
15
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. 6 54
7728148 1995
16
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency. 61 6
7728155 1995
17
Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency. 54 6
7907600 1994
18
A case of beta-ketothiolase deficiency. 61 57
6422156 1983
19
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. 61 6
7173255 1982
20
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. 61 57
7299555 1981
21
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. 57 61
4434646 1974
22
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". 57 61
4812006 1974
23
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency. 6
30393371 2019
24
A novel mutation (c.121‑13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene. 6
28393214 2017
25
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene. 6
28361105 2017
26
A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. 6
20488739 2010
27
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. 57
15877211 2005
28
Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide. 6
12754704 2003
29
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. 6
11161836 2001
30
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? 57
10604145 1999
31
Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping. 6
1627655 1992
32
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. 6
1373235 1992
33
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency. 6
1346617 1992
34
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. 57
1405470 1992
35
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. 57
2255576 1990
36
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency. 57
2893809 1988
37
Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria. 57
3698316 1986
38
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias. 57
7004178 1980
39
A "new" disorder of isoleucine catabolism. 57
4143539 1971
40
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats. 54 61
15902553 2005
41
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases. 61 54
15059617 2004
42
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes. 54 61
9001814 1996
43
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. 54 61
7749408 1995
44
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders. 61
32880084 2020
45
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis. 61
32226259 2020
46
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. 61
32345314 2020
47
Beta-ketothiolase deficiency in a Malaysian infant. 61
31079130 2019
48
Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome. 61
30409570 2019
49
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency]. 61
30835345 2019
50
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency. 61
31240151 2019

Variations for Alpha-Methylacetoacetic Aciduria

ClinVar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACAT1 NM_000019.4(ACAT1):c.1006-2A>C SNV Pathogenic 2835 rs145229472 11:108016927-108016927 11:108146200-108146200
2 ACAT1 NM_000019.4(ACAT1):c.1006-1G>C SNV Pathogenic 429749 rs1131691567 11:108016928-108016928 11:108146201-108146201
3 ACAT1 NM_000019.4(ACAT1):c.1163+2T>C SNV Pathogenic 2837 rs1280110907 11:108017088-108017088 11:108146361-108146361
4 ACAT1 NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) SNV Pathogenic 2838 rs120074142 11:107992335-107992335 11:108121608-108121608
5 ACAT1 NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) Deletion Pathogenic 524080 rs781496140 11:108016955-108016956 11:108146228-108146229
6 ACAT1 NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del Deletion Pathogenic 666537
7 ACAT1 NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del Deletion Pathogenic 666538
8 ACAT1 NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup Duplication Pathogenic 666539
9 ACAT1 NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del Deletion Pathogenic 666540
10 ACAT1 NC_000011.10:g.(?_108121597)_(108147400_?)del Deletion Pathogenic 832954 11:107992324-108018127
11 ACAT1 NM_000019.4(ACAT1):c.149del (p.Thr50fs) Deletion Pathogenic 208341 rs779565865 11:108004575-108004575 11:108133848-108133848
12 ACAT1 NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) SNV Pathogenic 858337 11:108016972-108016972 11:108146245-108146245
13 ACAT1 NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) SNV Pathogenic 864432 11:108010854-108010854 11:108140127-108140127
14 ACAT1 NM_000019.4(ACAT1):c.1A>G (p.Met1Val) SNV Pathogenic 666460 rs1305448140 11:107992334-107992334 11:108121607-108121607
15 ACAT1 NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) SNV Pathogenic 666461 rs120074142 11:107992335-107992335 11:108121608-108121608
16 ACAT1 NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) SNV Pathogenic 666462 rs1591360326 11:108002640-108002640 11:108131913-108131913
17 ACAT1 NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) SNV Pathogenic 666465 rs1469248513 11:108002660-108002660 11:108131933-108131933
18 ACAT1 NM_000019.4(ACAT1):c.121-13T>A SNV Pathogenic 666467 rs1591361903 11:108004534-108004534 11:108133807-108133807
19 ACAT1 NM_000019.4(ACAT1):c.334+1G>A SNV Pathogenic 666474 rs1591362533 11:108005044-108005044 11:108134317-108134317
20 ACAT1 NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) SNV Pathogenic 666471 rs1233969418 11:108004995-108004995 11:108134268-108134268
21 ACAT1 NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) SNV Pathogenic 666479 rs1591363760 11:108005914-108005914 11:108135187-108135187
22 ACAT1 NM_000019.4(ACAT1):c.435+1G>A SNV Pathogenic 666483 rs1591363834 11:108005970-108005970 11:108135243-108135243
23 ACAT1 NM_000019.4(ACAT1):c.446del (p.Val149fs) Deletion Pathogenic 666484 rs1591367375 11:108009635-108009635 11:108138908-108138908
24 ACAT1 NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) Deletion Pathogenic 666481 rs1591363800 11:108005947-108005948 11:108135220-108135221
25 ACAT1 NM_000019.4(ACAT1):c.730+1G>A SNV Pathogenic 666496 rs1591368919 11:108010943-108010943 11:108140216-108140216
26 ACAT1 NM_000019.4(ACAT1):c.731-46_752del Deletion Pathogenic 666497 rs1591370141 11:108012282-108012349 11:108141555-108141622
27 ACAT1 NM_000019.4(ACAT1):c.940+1G>T SNV Pathogenic 666512 rs1591371185 11:108013278-108013278 11:108142551-108142551
28 ACAT1 NM_000019.4(ACAT1):c.941-9T>A SNV Pathogenic 666513 rs980651269 11:108014701-108014701 11:108143974-108143974
29 ACAT1 NM_000019.4(ACAT1):c.1006-1G>A SNV Pathogenic 666520 rs1131691567 11:108016928-108016928 11:108146201-108146201
30 ACAT1 NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) SNV Pathogenic 666515 rs780486838 11:108014718-108014718 11:108143991-108143991
31 ACAT1 NM_000019.4(ACAT1):c.951C>T (p.Asp317=) SNV Pathogenic 666516 rs747714452 11:108014720-108014720 11:108143993-108143993
32 ACAT1 NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) SNV Pathogenic 666528 rs373771053 11:108017047-108017047 11:108146320-108146320
33 ACAT1 NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) SNV Pathogenic 666529 rs773491386 11:108017086-108017086 11:108146359-108146359
34 ACAT1 NM_000019.4(ACAT1):c.229del (p.Glu77fs) Deletion Pathogenic 942141 11:108004655-108004655 11:108133928-108133928
35 ACAT1 NM_000019.4(ACAT1):c.52dup (p.Leu18fs) Duplication Pathogenic 633029 rs1476273214 11:107992380-107992381 11:108121653-108121654
36 ACAT1 NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs) Microsatellite Pathogenic 666463 rs749873354 11:108002642-108002643 11:108131915-108131916
37 ACAT1 NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs) Microsatellite Pathogenic 666464 rs1591360348 11:108002644-108002645 11:108131917-108131918
38 ACAT1 NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) Indel Pathogenic 666475 rs1591363674 11:108005888-108005889 11:108135161-108135162
39 ACAT1 NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) Indel Pathogenic 666486 rs1591367422 11:108009651-108009671 11:108138924-108138944
40 ACAT1 NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) Insertion Pathogenic 666498 rs1591370221 11:108012355-108012356 11:108141628-108141629
41 ACAT1 NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) Duplication Pathogenic 666521 rs1591374544 11:108016934-108016935 11:108146207-108146208
42 ACAT1 NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) Duplication Pathogenic 666523 rs1565297723 11:108016949-108016950 11:108146222-108146223
43 ACAT1 NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) Duplication Pathogenic 666534 rs1591375843 11:108018055-108018056 11:108147328-108147329
44 ACAT1 NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) Duplication Pathogenic 853510 11:108018012-108018013 11:108147285-108147286
45 ACAT1 NM_000019.4(ACAT1):c.826+1G>T SNV Pathogenic 166650 rs727503796 11:108012428-108012428 11:108141701-108141701
46 ACAT1 NC_000011.10:g.(?_108138888)_(108140225_?)del Deletion Pathogenic 656823 11:108009615-108010952 11:108138888-108140225
47 ACAT1 NM_000019.4(ACAT1):c.120+374_731-68delinsTAA Indel Pathogenic 666536 11:108003055-108012264 11:108132328-108141537
48 ACAT1 NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) SNV Pathogenic 2840 rs120074144 11:108012415-108012415 11:108141688-108141688
49 ACAT1 NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) Duplication Pathogenic 2842 rs387906283 11:108017005-108017006 11:108146278-108146279
50 ACAT1 NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) SNV Pathogenic 376832 rs532190594 11:108010834-108010834 11:108140107-108140107

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

73
# 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 rs886041122
6 ACAT1 p.Ala301Pro VAR_007503 rs142032126
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

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 KEGG:

36
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Synthesis and degradation of ketone bodies hsa00072

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 MAT1A HSD17B10 HMGCL HIBCH HADH ETFDH
2
Show member pathways
12.62 HMGCL HADH ACAT1 ACAA2
3
Show member pathways
12.22 HADH ACAT2 ACAT1 ACAA2 ACAA1
4
Show member pathways
12.06 MAT1A HIBCH ACAT2 ACAT1
5
Show member pathways
11.66 HADH ACAA2 ACAA1
6
Show member pathways
11.59 HSD17B10 HADH ACAT2 ACAT1
7 11.52 HMGCL HIBCH HADH ACAA1
8 11.45 HADH ACAT2 ACAT1
9
Show member pathways
11.3 HADH ACAT1
10
Show member pathways
11.3 HSD17B10 HMGCL HIBCH HADH ACAT2 ACAT1
11
Show member pathways
11.23 ACAT2 ACAT1
12
Show member pathways
11.18 ACAT2 ACAT1
13
Show member pathways
11.18 HSD17B10 HADH ACAA2 ACAA1
14 11.11 HIBCH ACAT2 ACAT1
15
Show member pathways
11.07 HMGCL ACAT1
16 11 ACAT2 ACAT1
17 10.85 HADH ACAA2
18
Show member pathways
10.84 HMGCL HADH ACAT2 ACAT1

GO Terms for Alpha-Methylacetoacetic Aciduria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 HSD17B10 HMGCL HIBCH HADH ETFDH ACAT2
2 mitochondrial matrix GO:0005759 9.17 HSD17B10 HMGCL HIBCH HADH ETFDH ACAT1
3 peroxisomal matrix GO:0005782 9.16 HMGCL ACAA1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.7 HSD17B10 HMGCL HADH ACAT2 ACAT1 ACAA2
2 response to hormone GO:0009725 9.48 HADH ACAT1
3 protein homotetramerization GO:0051289 9.46 MAT1A HSD17B10
4 response to starvation GO:0042594 9.43 HMGCL ACAT1
5 branched-chain amino acid catabolic process GO:0009083 9.43 HSD17B10 HIBCH ACAT1
6 fatty acid metabolic process GO:0006631 9.43 HSD17B10 HADH ACAT2 ACAT1 ACAA2 ACAA1
7 cholesterol biosynthetic process GO:0006695 9.4 ACAT2 ACAA2
8 ketone body biosynthetic process GO:0046951 9.37 HMGCL ACAT1
9 isoleucine catabolic process GO:0006550 9.32 HSD17B10 ACAT1
10 fatty acid beta-oxidation GO:0006635 9.1 HSD17B10 HADH ACAT2 ACAT1 ACAA2 ACAA1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.88 MAT1A HADH ACAT2 ACAT1 ACAA2 ACAA1
2 catalytic activity GO:0003824 9.72 HMGCL ACAT2 ACAT1 ACAA2 ACAA1
3 transferase activity, transferring acyl groups GO:0016746 9.46 ACAT2 ACAT1 ACAA2 ACAA1
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.37 HSD17B10 HADH
5 acetyl-CoA C-acyltransferase activity GO:0003988 9.26 ACAA2 ACAA1
6 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 ACAT2 ACAT1 ACAA2 ACAA1
7 acetyl-CoA C-acetyltransferase activity GO:0003985 8.92 ACAT2 ACAT1 ACAA2 ACAA1

Sources for Alpha-Methylacetoacetic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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