3KTD
MCID: ALP077
MIFTS: 55

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 56 25 36 13
Beta-Ketothiolase Deficiency 56 12 25 58 54 15
3-Ketothiolase Deficiency 56 12 52 25 58 73
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 56 12 52 25
3-Oxothiolase Deficiency 56 12 52 58
Alpha-Methylacetoaceticaciduria 12 52 73
Mat Deficiency 56 74 25
T2 Deficiency 56 25 58
2-Methyl-3-Hydroxybutyricacidemia 12 52
Beta Ketothiolase Deficiency 74 52
Pseudo-Zellweger Syndrome 43 71
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 25
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 58
Hepatic Methionine Adenosyltransferase Deficiency 71
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-Alpha-Methyl-3-Hydroxybutyricacidemia 25
2-Methyl-3-Hydroxybutyric Acidemia 56
Aciduria, Alpha-Methylacetoacetic 39
Alpha Methylacetoacetic Aciduria 58
Peroxisomal Thiolase Deficiency 12
3-Alpha-Ketothiolase Deficiency 25
3-Methylhydroxybutyric Acidemia 25
3-Alpha-Oxothiolase Deficiency 25
Β-Ketothiolase Deficiency 25
3-Alpha-Ktd Deficiency 25
3-Ktd Deficiency 56
3ktd 73
Bkt 25

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:

56
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

NIH Rare Diseases : 52 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 organic acidemia and propionic acidemia, 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. The drugs chenodeoxycholic acid and Ursodeoxycholic acid have been mentioned in the context of this disorder. 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.

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. 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, periods without food (fasting), or increased intake of protein-rich foods.

OMIM : 56 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)

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 62)
# Related Disease Score Top Affiliating Genes
1 organic acidemia 30.0 MMD MMACHC HMGCL
2 propionic acidemia 29.2 MMD MMACHC HMGCL HIBCH ACADSB
3 d-bifunctional protein deficiency 12.4
4 methionine adenosyltransferase i/iii deficiency 11.4
5 hypermethioninemia 11.2
6 metabolic acidosis 10.5
7 diarrhea 10.5
8 autosomal recessive disease 10.4
9 syndromic x-linked intellectual disability type 10 10.4 HSD17B10 FSIP1
10 ocular motor apraxia 10.3
11 inherited metabolic disorder 10.3
12 hypoglycemia 10.3
13 methionine adenosyltransferase deficiency 10.3
14 encephalopathy 10.3
15 combined oxidative phosphorylation deficiency 30 10.3 HSD17B10 FSIP1
16 intestinal disaccharidase deficiency 10.3 MMD MAT1A
17 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.3 HSD17B10 HADH
18 3-hydroxyacyl-coa dehydrogenase deficiency 10.3 HSD17B10 HADH
19 atrial standstill 1 10.2
20 abdominal obesity-metabolic syndrome 1 10.2
21 chorea, childhood-onset, with psychomotor retardation 10.2
22 mucopolysaccharidosis-plus syndrome 10.2
23 mucopolysaccharidosis iv 10.2
24 choreatic disease 10.2
25 toxic encephalopathy 10.2
26 hyperglycemia 10.2
27 zellweger syndrome 10.2
28 morquio syndrome 10.2
29 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.2
30 mitochondrial disorders 10.2
31 2-methylacetoacetyl coa thiolase deficiency 10.2
32 hypotonia 10.2
33 mucopolysaccharidoses 10.2
34 inflammatory myopathy with abundant macrophages 10.2
35 taqi polymorphism 10.2
36 common cold 10.2
37 dystonia 10.2
38 2-methylbutyryl-coa dehydrogenase deficiency 10.2 HSD17B10 ACADSB
39 3-methylcrotonyl-coa carboxylase deficiency 10.1 MMD HADH
40 acyl-coa dehydrogenase, very long-chain, deficiency of 10.1 HADH ETFDH
41 peroxisomal disease 10.1
42 colpocephaly 10.1
43 acyl-coa dehydrogenase deficiency 10.1 ETFDH ACADSB
44 carnitine deficiency, systemic primary 10.0 HADH ETFDH
45 intracranial arteriosclerosis 10.0 MMD MMACHC
46 reye syndrome 10.0 HMGCL ETFDH
47 biotinidase deficiency 10.0 MMD HIBCH HADH
48 maple syrup urine disease 10.0 MMD HMGCL HADH
49 carnitine palmitoyltransferase ii deficiency, infantile 10.0 HADH ETFDH
50 glutaric acidemia i 10.0 MMD HADH 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 45)
# 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 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
11 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
12 apathy 58 31 frequent (33%) Frequent (79-30%) HP:0000741
13 coma 58 31 frequent (33%) Frequent (79-30%) HP:0001259
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 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
18 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
19 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
20 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
21 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
22 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
23 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
24 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
25 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
26 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
27 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
28 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
29 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
30 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
31 oral aversion 58 31 occasional (7.5%) Occasional (29-5%) HP:0012523
32 hyperglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003074
33 agitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000713
34 extrapyramidal dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007308
35 abnormal metabolic brain imaging by mrs 58 31 occasional (7.5%) Occasional (29-5%) HP:0012705
36 body odor 58 31 occasional (7.5%) Occasional (29-5%) HP:0500001
37 seizure 31 occasional (7.5%) HP:0001250
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 reduced consciousness/confusion 58 Frequent (79-30%)
43 abnormality of higher mental function 58 Very frequent (99-80%)
44 acidosis 58 Very frequent (99-80%)
45 episodic ketoacidosis 31 HP:0005974

Symptoms via clinical synopsis from OMIM:

56
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

Symptoms:

12
  • recurrent ketoacidotic attacks in infancy marked by vomitting

UMLS symptoms related to Alpha-Methylacetoacetic Aciduria:


vomiting

Drugs & Therapeutics for Alpha-Methylacetoacetic Aciduria

Drugs for Alpha-Methylacetoacetic Aciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved 474-25-9 10133
2
Ursodeoxycholic acid Approved, Investigational 128-13-2 31401
3 Laxatives
4 Cathartics
5 Gastrointestinal Agents
6 Cholic Acids
7 Bile Acids and Salts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 chenodeoxycholic acid;cholic acid;ursodiol

Search 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 101)
# Title Authors PMID Year
1
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. 56 6 61
9700610 1998
2
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. 56 6
8103405 1993
3
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. 6 56
1715688 1991
4
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. 6 56
4690360 1973
5
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. 54 56
17236799 2007
6
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. 54 6
11914035 2002
7
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 6 54
9744475 1998
8
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. 6 54
7907600 1994
9
A case of beta-ketothiolase deficiency. 61 56
6422156 1983
10
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. 61 6
7173255 1982
11
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. 56 61
7299555 1981
12
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. 56 61
4434646 1974
13
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". 56 61
4812006 1974
14
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. 56
15877211 2005
15
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? 56
10604145 1999
16
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
17
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. 6
1373235 1992
18
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
19
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. 56
1405470 1992
20
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency. 56
2255576 1990
21
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency. 56
2893809 1988
22
Deficient beta-ketothiolase activity in leukocytes from a patient with 2-methylacetoacetic aciduria. 56
3698316 1986
23
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias. 56
7004178 1980
24
A "new" disorder of isoleucine catabolism. 56
4143539 1971
25
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats. 54 61
15902553 2005
26
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. 54 61
15059617 2004
27
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. 61 54
9001814 1996
28
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. 61 54
7749408 1995
29
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. 61
32345314 2020
30
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis. 61
32226259 2020
31
Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome. 61
30409570 2019
32
Beta-ketothiolase deficiency in a Malaysian infant. 61
31079130 2019
33
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency. 61
31240151 2019
34
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency]. 61
30835345 2019
35
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China. 61
31156707 2019
36
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry. 61
29402417 2018
37
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature. 61
30026775 2018
38
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. 61
28726122 2018
39
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. 61
28689740 2017
40
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. 61
28220263 2017
41
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. 61
27928777 2017
42
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. 61
29624230 2017
43
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. 61
27748876 2016
44
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. 61
27264805 2016
45
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 61
25689098 2015
46
NMR-based urinalysis for beta-ketothiolase deficiency. 61
25195009 2015
47
MRI of pallidal involvement in Beta-ketothiolase deficiency. 61
23163837 2014
48
Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. 61
23958592 2014
49
A treatable new cause of chorea: beta-ketothiolase deficiency. 61
23818432 2013
50
Beta-ketothiolase deficiency and pregnancy. 61
23664791 2013

Variations for Alpha-Methylacetoacetic Aciduria

ClinVar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show top 50) (show all 336) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAT1A NM_000429.3(MAT1A):c.895C>T (p.Arg299Cys)SNV Pathogenic 418870 rs376993881 10:82034829-82034829 10:80275073-80275073
2 ACAT1 NM_000019.4(ACAT1):c.1006-1G>CSNV Pathogenic 429749 rs1131691567 11:108016928-108016928 11:108146201-108146201
3 ACAT1 NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)deletion Pathogenic 524080 rs781496140 11:108016955-108016956 11:108146228-108146229
4 ACAT1 NM_000019.4(ACAT1):c.52dup (p.Leu18fs)duplication Pathogenic 633029 rs1476273214 11:107992380-107992381 11:108121653-108121654
5 ACAT1 NM_000019.4(ACAT1):c.1A>G (p.Met1Val)SNV Pathogenic 666460 11:107992334-107992334 11:108121607-108121607
6 ACAT1 NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)SNV Pathogenic 666461 11:107992335-107992335 11:108121608-108121608
7 ACAT1 NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)SNV Pathogenic 666462 11:108002640-108002640 11:108131913-108131913
8 ACAT1 NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs)short repeat Pathogenic 666463 11:108002642-108002643 11:108131915-108131916
9 ACAT1 NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs)short repeat Pathogenic 666464 11:108002644-108002645 11:108131917-108131918
10 ACAT1 NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)SNV Pathogenic 666465 11:108002660-108002660 11:108131933-108131933
11 ACAT1 NC_000011.10:g.(?_108138888)_(108140225_?)deldeletion Pathogenic 656823 11:108009615-108010952 11:108138888-108140225
12 ACAT1 NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs)indel Pathogenic 666475 11:108005888-108005889 11:108135161-108135162
13 ACAT1 NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)SNV Pathogenic 666471 11:108004995-108004995 11:108134268-108134268
14 ACAT1 NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)SNV Pathogenic 666479 11:108005914-108005914 11:108135187-108135187
15 ACAT1 NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)deletion Pathogenic 666481 11:108005947-108005948 11:108135220-108135221
16 ACAT1 NM_000019.4(ACAT1):c.446del (p.Val149fs)deletion Pathogenic 666484 11:108009635-108009635 11:108138908-108138908
17 ACAT1 NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs)indel Pathogenic 666486 11:108009651-108009671 11:108138924-108138944
18 ACAT1 NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs)insertion Pathogenic 666498 11:108012355-108012356 11:108141628-108141629
19 ACAT1 NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)SNV Pathogenic 666515 11:108014718-108014718 11:108143991-108143991
20 ACAT1 NM_000019.4(ACAT1):c.951C>T (p.Asp317=)SNV Pathogenic 666516 11:108014720-108014720 11:108143993-108143993
21 ACAT1 NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)duplication Pathogenic 666523 11:108016949-108016950 11:108146222-108146223
22 ACAT1 NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs)duplication Pathogenic 666521 11:108016934-108016935 11:108146207-108146208
23 ACAT1 NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)SNV Pathogenic 666528 11:108017047-108017047 11:108146320-108146320
24 ACAT1 NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu)SNV Pathogenic 666529 11:108017086-108017086 11:108146359-108146359
25 ACAT1 NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs)duplication Pathogenic 666534 11:108018055-108018056 11:108147328-108147329
26 ACAT1 NM_000019.4(ACAT1):c.940+1G>TSNV Pathogenic 666512 11:108013278-108013278 11:108142551-108142551
27 ACAT1 NM_000019.4(ACAT1):c.941-9T>ASNV Pathogenic 666513 11:108014701-108014701 11:108143974-108143974
28 ACAT1 NM_000019.4(ACAT1):c.1006-1G>ASNV Pathogenic 666520 11:108016928-108016928 11:108146201-108146201
29 ACAT1 NM_000019.3:c.(120+1_121-1)_(344+1_345-1)deldeletion Pathogenic 666537
30 ACAT1 , ACAT2 NM_000019.3:c.(72+1_73-1)_(344+1_345-1)deldeletion Pathogenic 666538
31 ACAT1 NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dupduplication Pathogenic 666539
32 ACAT1 NM_000019.3:c.(72+1_73-1)_(435+1_436-1)deldeletion Pathogenic 666540
33 ACAT1 NM_000019.4(ACAT1):c.334+1G>ASNV Pathogenic 666474 11:108005044-108005044 11:108134317-108134317
34 ACAT1 NM_000019.4(ACAT1):c.435+1G>ASNV Pathogenic 666483 11:108005970-108005970 11:108135243-108135243
35 ACAT1 NM_000019.4(ACAT1):c.730+1G>ASNV Pathogenic 666496 11:108010943-108010943 11:108140216-108140216
36 ACAT1 NM_000019.4(ACAT1):c.731-46_752deldeletion Pathogenic 666497 11:108012282-108012349 11:108141555-108141622
37 ACAT1 NG_009888.2:g.20624_29833delinsTAAindel Pathogenic 666536
38 ACAT1 NM_000019.4(ACAT1):c.121-13T>ASNV Pathogenic 666467 11:108004534-108004534 11:108133807-108133807
39 ACAT1 NC_000011.10:g.(?_108121597)_(108147400_?)deldeletion Pathogenic 832954 11:107992324-108018127
40 MAT1A NM_000429.3(MAT1A):c.1066C>T (p.Arg356Trp)SNV Pathogenic 834512 10:82034295-82034295 10:80274539-80274539
41 ACAT1 NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)SNV Pathogenic 864432 11:108010854-108010854 11:108140127-108140127
42 ACAT1 NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)SNV Pathogenic 858337 11:108016972-108016972 11:108146245-108146245
43 ACAT1 NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)duplication Pathogenic 853510 11:108018012-108018013 11:108147285-108147286
44 MAT1A NM_000429.3(MAT1A):c.966T>G (p.Ile322Met)SNV Pathogenic 1202 rs118204001 10:82034395-82034395 10:80274639-80274639
45 MAT1A NM_000429.3(MAT1A):c.164C>A (p.Ala55Asp)SNV Pathogenic 1203 rs118204002 10:82045273-82045273 10:80285517-80285517
46 MAT1A NM_000429.3(MAT1A):c.914T>C (p.Leu305Pro)SNV Pathogenic 1205 rs118204004 10:82034810-82034810 10:80275054-80275054
47 MAT1A MAT1A, 1-BP INS, 827Ginsertion Pathogenic 1206
48 MAT1A MAT1A, 2-BP DEL, 1043TGdeletion Pathogenic 1207
49 MAT1A NM_000429.3(MAT1A):c.791G>A (p.Arg264His)SNV Pathogenic 1208 rs72558181 10:82034933-82034933 10:80275177-80275177
50 MAT1A MAT1A, 2-BP INS, 539TGinsertion Pathogenic 1209

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 MMACHC MAT1A HSD17B10 HMGCL HIBCH HADH
2
Show member pathways
12.69 HMGCL HADH BDH2 ACAT1 ACAA2
3
Show member pathways
12.12 MAT1A HIBCH ACAT2 ACAT1
4
Show member pathways
12.09 HADH ACAT2 ACAT1 ACADSB ACAA2 ACAA1
5
Show member pathways
11.68 HADH ACAA2 ACAA1
6
Show member pathways
11.63 HSD17B10 HADH ACAT2 ACAT1
7 11.58 HMGCL HIBCH HADH ACAA1
8 11.44 HADH ACAT2 ACAT1
9
Show member pathways
11.35 HSD17B10 HMGCL HIBCH HADH ACAT2 ACAT1
10
Show member pathways
11.28 HSD17B10 HADH ACAA2 ACAA1
11 11.16 HIBCH ACAT2 ACAT1
12
Show member pathways
11.14 HMGCL BDH2 ACAT1
13 11.03 ACAT2 ACAT1
14
Show member pathways
10.93 HMGCL HADH BDH2 ACAT2 ACAT1
15 10.89 HADH ACAA2
16
Show member pathways
10.84 HSD17B10 ACADSB

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 9.65 HSD17B10 HMGCL HIBCH HADH ETFDH BDH2
2 mitochondrial matrix GO:0005759 9.23 HSD17B10 HMGCL HIBCH HADH ETFDH ACAT1

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 MMACHC HSD17B10 HADH ETFDH BDH2 ALKBH8
2 lipid metabolic process GO:0006629 9.86 HSD17B10 HMGCL HADH ACAT2 ACAT1 ACADSB
3 fatty acid metabolic process GO:0006631 9.63 HADH ACAT2 ACAT1 ACADSB ACAA2 ACAA1
4 ketone body biosynthetic process GO:0046951 9.5 HMGCL BDH2 ACAT1
5 branched-chain amino acid catabolic process GO:0009083 9.26 HSD17B10 HIBCH ACAT1 ACADSB
6 fatty acid beta-oxidation GO:0006635 9.1 HADH BDH2 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 catalytic activity GO:0003824 9.8 HMGCL ALKBH8 ACAT2 ACAT1 ACAA2 ACAA1
2 oxidoreductase activity GO:0016491 9.8 MMACHC HSD17B10 HADH ETFDH BDH2 ALKBH8
3 transferase activity, transferring acyl groups GO:0016746 9.67 ACAT2 ACAT1 ACAA2 ACAA1
4 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.4 HSD17B10 HADH
5 acetyl-CoA C-acetyltransferase activity GO:0003985 9.33 ACAT2 ACAT1 ACAA2
6 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 ACAT2 ACAT1 ACAA2 ACAA1
7 acetyl-CoA C-acyltransferase activity GO:0003988 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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