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 72
3-Oxothiolase Deficiency 57 12 20 43 58
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 57 12 20 43
Alpha-Methylacetoaceticaciduria 12 20 72 6
2-Methyl-3-Hydroxybutyricacidemia 12 20 43
Mat Deficiency 57 73 43
T2 Deficiency 57 43 58
Beta Ketothiolase Deficiency 73 20
Pseudo-Zellweger Syndrome 44 70
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 70
Methylacetoacetyl-Coenzyme a Thiolase Deficiency 43
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 58
Bifunctional Peroxisomal Enzyme Deficiency 70
Deficiency of Acetyl-Coa Acetyltransferase 70
Deficiency of Acetyl-Coa Acyltransferase 70
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 72

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 20-May-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 metabolic acidosis and organic 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. 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 20-May-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 : 72 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 : 73 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 56)
# Related Disease Score Top Affiliating Genes
1 metabolic acidosis 30.6 HSD17B10 HMGCL HLCS
2 organic acidemia 29.4 MMACHC MMAA HMGCL HLCS
3 propionic acidemia 29.1 MMACHC MMAA HMGCL HLCS HIBCH
4 d-bifunctional protein deficiency 11.6
5 methionine adenosyltransferase i/iii deficiency 11.3
6 hypermethioninemia 11.0
7 diarrhea 10.3
8 ocular motor apraxia 10.3
9 combined oxidative phosphorylation deficiency 30 10.2 HSD17B10 FSIP1
10 inherited metabolic disorder 10.2
11 hypoglycemia 10.2
12 methionine adenosyltransferase deficiency 10.2
13 encephalopathy 10.2
14 autosomal recessive disease 10.2
15 reye syndrome 10.1 HMGCL ETFDH
16 common cold 10.1
17 dystonia 10.1
18 syndromic x-linked intellectual disability type 10 10.1 HSD17B10 HADH FSIP1
19 acyl-coa dehydrogenase, short-chain, deficiency of 10.1 HADH ETFDH
20 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 HSD17B10 HMGCL HADH
21 stroke, ischemic 10.1
22 abdominal obesity-metabolic syndrome 1 10.1
23 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
24 chorea, childhood-onset, with psychomotor retardation 10.1
25 mucopolysaccharidosis-plus syndrome 10.1
26 japanese encephalitis 10.1
27 mucopolysaccharidosis iv 10.1
28 choreatic disease 10.1
29 toxic encephalopathy 10.1
30 hypokalemia 10.1
31 zellweger syndrome 10.1
32 encephalitis 10.1
33 morquio syndrome 10.1
34 medium-chain acyl-coenzyme a dehydrogenase deficiency 10.1
35 mitochondrial disorders 10.1
36 2-methylacetoacetyl coa thiolase deficiency 10.1
37 hypotonia 10.1
38 mucopolysaccharidoses 10.1
39 inflammatory myopathy with abundant macrophages 10.1
40 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.0 HSD17B10 HMGCL HADH
41 taqi polymorphism 10.0
42 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 HADH ETFDH
43 carnitine deficiency, systemic primary 10.0 HADH ETFDH
44 peroxisomal disease 10.0
45 colpocephaly 10.0
46 carnitine palmitoyltransferase ii deficiency, infantile 10.0 HADH ETFDH
47 acute laryngitis 9.9 SLC35F2 ELMOD2 ELMOD1
48 maple syrup urine disease 9.8 MMAA HMGCL HADH
49 vitamin metabolic disorder 9.8 MMACHC MMAA
50 acyl-coa dehydrogenase, very long-chain, deficiency of 9.8 MMAA 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 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 20-May-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 20-May-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 115)
# 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 54 6
17236799 2007
2
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. 57 61 6
9700610 1998
3
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency. 6 57
15877211 2005
4
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. 6 57
8103405 1993
5
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. 6 57
1715688 1991
6
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. 57 6
4690360 1973
7
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. 6 61 54
7749408 1995
8
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency]. 61 6
30835345 2019
9
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency. 6 61
31240151 2019
10
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. 6 61
28726122 2018
11
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. 61 6
28689740 2017
12
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. 6 61
28220263 2017
13
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. 61 6
29624230 2017
14
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. 61 6
27928777 2017
15
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. 61 6
27748876 2016
16
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. 6 61
27264805 2016
17
Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. 61 6
23958592 2014
18
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. 6 61
23430882 2012
19
A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 6 54
20156697 2010
20
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. 6 54
20046049 2010
21
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
22
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. 54 6
15128923 2004
23
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
24
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. 54 6
11161837 2001
25
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. 6 54
9744475 1998
26
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency. 6 61
9090533 1997
27
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. 6 61
7728155 1995
28
Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients. 54 6
7728148 1995
29
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
30
A case of beta-ketothiolase deficiency. 61 57
6422156 1983
31
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. 6 61
7173255 1982
32
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. 57 61
7299555 1981
33
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. 61 57
4434646 1974
34
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". 61 57
4812006 1974
35
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 6
31268215 2019
36
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency. 6
30393371 2019
37
Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene. 6
28875337 2017
38
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
39
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. 6
28255778 2017
40
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
41
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status. 6
24517888 2014
42
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. 6
21669895 2011
43
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
44
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
45
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
46
beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia? 57
10604145 1999
47
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
48
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. 6
1373235 1992
49
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
50
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts. 57
1405470 1992

Variations for Alpha-Methylacetoacetic Aciduria

ClinVar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAT1 NM_000019.4(ACAT1):c.1163+2T>C SNV Pathogenic 2837 rs1280110907 GRCh37: 11:108017088-108017088
GRCh38: 11:108146361-108146361
2 ACAT1 NM_000019.4(ACAT1):c.2T>A (p.Met1Lys) SNV Pathogenic 2838 rs120074142 GRCh37: 11:107992335-107992335
GRCh38: 11:108121608-108121608
3 ACAT1 NM_000019.4(ACAT1):c.149del (p.Thr50fs) Deletion Pathogenic 208341 rs779565865 GRCh37: 11:108004575-108004575
GRCh38: 11:108133848-108133848
4 ACAT1 NM_000019.3:c.(120+1_121-1)_(344+1_345-1)del Deletion Pathogenic 666537 GRCh37:
GRCh38:
5 ACAT1 , ACAT2 NM_000019.3:c.(72+1_73-1)_(344+1_345-1)del Deletion Pathogenic 666538 GRCh37:
GRCh38:
6 ACAT1 NM_000019.3:c.(730+1_731-1)_(940+1_941-1)dup Duplication Pathogenic 666539 GRCh37:
GRCh38:
7 ACAT1 NM_000019.3:c.(72+1_73-1)_(435+1_436-1)del Deletion Pathogenic 666540 GRCh37:
GRCh38:
8 ACAT1 NC_000011.10:g.(?_108121597)_(108147400_?)del Deletion Pathogenic 832954 GRCh37: 11:107992324-108018127
GRCh38:
9 ACAT1 NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter) SNV Pathogenic 858337 GRCh37: 11:108016972-108016972
GRCh38: 11:108146245-108146245
10 ACAT1 NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter) SNV Pathogenic 864432 GRCh37: 11:108010854-108010854
GRCh38: 11:108140127-108140127
11 ACAT1 NM_000019.4(ACAT1):c.1A>G (p.Met1Val) SNV Pathogenic 666460 rs1305448140 GRCh37: 11:107992334-107992334
GRCh38: 11:108121607-108121607
12 ACAT1 NM_000019.4(ACAT1):c.2T>C (p.Met1Thr) SNV Pathogenic 666461 rs120074142 GRCh37: 11:107992335-107992335
GRCh38: 11:108121608-108121608
13 ACAT1 NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter) SNV Pathogenic 666462 rs1591360326 GRCh37: 11:108002640-108002640
GRCh38: 11:108131913-108131913
14 ACAT1 NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter) SNV Pathogenic 666465 rs1469248513 GRCh37: 11:108002660-108002660
GRCh38: 11:108131933-108131933
15 ACAT1 NM_000019.4(ACAT1):c.121-13T>A SNV Pathogenic 666467 rs1591361903 GRCh37: 11:108004534-108004534
GRCh38: 11:108133807-108133807
16 ACAT1 NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter) SNV Pathogenic 666471 rs1233969418 GRCh37: 11:108004995-108004995
GRCh38: 11:108134268-108134268
17 ACAT1 NM_000019.4(ACAT1):c.334+1G>A SNV Pathogenic 666474 rs1591362533 GRCh37: 11:108005044-108005044
GRCh38: 11:108134317-108134317
18 ACAT1 NM_000019.4(ACAT1):c.380C>T (p.Ala127Val) SNV Pathogenic 666479 rs1591363760 GRCh37: 11:108005914-108005914
GRCh38: 11:108135187-108135187
19 ACAT1 NM_000019.4(ACAT1):c.414_415del (p.Leu140fs) Deletion Pathogenic 666481 rs1591363800 GRCh37: 11:108005947-108005948
GRCh38: 11:108135220-108135221
20 ACAT1 NM_000019.4(ACAT1):c.435+1G>A SNV Pathogenic 666483 rs1591363834 GRCh37: 11:108005970-108005970
GRCh38: 11:108135243-108135243
21 ACAT1 NM_000019.4(ACAT1):c.940+1G>T SNV Pathogenic 666512 rs1591371185 GRCh37: 11:108013278-108013278
GRCh38: 11:108142551-108142551
22 ACAT1 NM_000019.4(ACAT1):c.941-9T>A SNV Pathogenic 666513 rs980651269 GRCh37: 11:108014701-108014701
GRCh38: 11:108143974-108143974
23 ACAT1 NM_000019.4(ACAT1):c.1006-1G>A SNV Pathogenic 666520 rs1131691567 GRCh37: 11:108016928-108016928
GRCh38: 11:108146201-108146201
24 ACAT1 NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn) SNV Pathogenic 666515 rs780486838 GRCh37: 11:108014718-108014718
GRCh38: 11:108143991-108143991
25 ACAT1 NM_000019.4(ACAT1):c.951C>T (p.Asp317=) SNV Pathogenic 666516 rs747714452 GRCh37: 11:108014720-108014720
GRCh38: 11:108143993-108143993
26 ACAT1 NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) SNV Pathogenic 666528 rs373771053 GRCh37: 11:108017047-108017047
GRCh38: 11:108146320-108146320
27 ACAT1 NM_000019.4(ACAT1):c.1163G>A (p.Gly388Glu) SNV Pathogenic 666529 rs773491386 GRCh37: 11:108017086-108017086
GRCh38: 11:108146359-108146359
28 ACAT1 NM_000019.4(ACAT1):c.229del (p.Glu77fs) Deletion Pathogenic 942141 GRCh37: 11:108004655-108004655
GRCh38: 11:108133928-108133928
29 ACAT1 NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs) Duplication Pathogenic 853510 GRCh37: 11:108018012-108018013
GRCh38: 11:108147285-108147286
30 ACAT1 NM_000019.4(ACAT1):c.84_85TG[3] (p.Glu30fs) Microsatellite Pathogenic 666464 rs1591360348 GRCh37: 11:108002644-108002645
GRCh38: 11:108131917-108131918
31 ACAT1 NC_000011.10:g.(?_108138888)_(108140225_?)del Deletion Pathogenic 656823 GRCh37: 11:108009615-108010952
GRCh38: 11:108138888-108140225
32 ACAT1 NM_000019.4(ACAT1):c.120+374_731-68delinsTAA Indel Pathogenic 666536 GRCh37: 11:108003055-108012264
GRCh38: 11:108132328-108141537
33 ACAT1 NM_000019.4(ACAT1):c.1006-2A>C SNV Pathogenic 2835 rs145229472 GRCh37: 11:108016927-108016927
GRCh38: 11:108146200-108146200
34 ACAT1 NM_000019.4(ACAT1):c.826+1G>T SNV Pathogenic 166650 rs727503796 GRCh37: 11:108012428-108012428
GRCh38: 11:108141701-108141701
35 ACAT1 NM_000019.4(ACAT1):c.81_82AT[1] (p.Tyr28fs) Microsatellite Pathogenic 666463 rs749873354 GRCh37: 11:108002642-108002643
GRCh38: 11:108131915-108131916
36 ACAT1 NM_000019.4(ACAT1):c.1006-1G>C SNV Pathogenic 429749 rs1131691567 GRCh37: 11:108016928-108016928
GRCh38: 11:108146201-108146201
37 ACAT1 NM_000019.4(ACAT1):c.1083dup (p.Ala362fs) Duplication Pathogenic 2842 rs387906283 GRCh37: 11:108017005-108017006
GRCh38: 11:108146278-108146279
38 ACAT1 NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) SNV Pathogenic 2840 rs120074144 GRCh37: 11:108012415-108012415
GRCh38: 11:108141688-108141688
39 ACAT1 NM_000019.4(ACAT1):c.52dup (p.Leu18fs) Duplication Pathogenic 633029 rs1476273214 GRCh37: 11:107992380-107992381
GRCh38: 11:108121653-108121654
40 ACAT1 NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter) SNV Pathogenic 376832 rs532190594 GRCh37: 11:108010834-108010834
GRCh38: 11:108140107-108140107
41 ACAT1 NM_000019.4(ACAT1):c.1223_1226dup (p.Ala410fs) Duplication Pathogenic 666534 rs1591375843 GRCh37: 11:108018055-108018056
GRCh38: 11:108147328-108147329
42 ACAT1 NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) Duplication Pathogenic 666523 rs1565297723 GRCh37: 11:108016949-108016950
GRCh38: 11:108146222-108146223
43 ACAT1 NM_000019.4(ACAT1):c.1013_1016dup (p.Asp339fs) Duplication Pathogenic 666521 rs1591374544 GRCh37: 11:108016934-108016935
GRCh38: 11:108146207-108146208
44 ACAT1 NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs) Deletion Pathogenic 524080 rs781496140 GRCh37: 11:108016955-108016956
GRCh38: 11:108146228-108146229
45 ACAT1 NM_000019.4(ACAT1):c.754_755insCT (p.Glu252fs) Insertion Pathogenic 666498 rs1591370221 GRCh37: 11:108012355-108012356
GRCh38: 11:108141628-108141629
46 ACAT1 NM_000019.4(ACAT1):c.462_482delinsTCCTC (p.Glu154fs) Indel Pathogenic 666486 rs1591367422 GRCh37: 11:108009651-108009671
GRCh38: 11:108138924-108138944
47 ACAT1 NM_000019.4(ACAT1):c.354_355delinsG (p.Cys119fs) Indel Pathogenic 666475 rs1591363674 GRCh37: 11:108005888-108005889
GRCh38: 11:108135161-108135162
48 ACAT1 NM_000019.4(ACAT1):c.731-46_752del Deletion Pathogenic 666497 rs1591370141 GRCh37: 11:108012282-108012349
GRCh38: 11:108141555-108141622
49 ACAT1 NM_000019.4(ACAT1):c.730+1G>A SNV Pathogenic 666496 rs1591368919 GRCh37: 11:108010943-108010943
GRCh38: 11:108140216-108140216
50 ACAT1 NM_000019.4(ACAT1):c.446del (p.Val149fs) Deletion Pathogenic 666484 rs1591367375 GRCh37: 11:108009635-108009635
GRCh38: 11:108138908-108138908

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

72
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 MMACHC MMAA MAT1A HSD17B10 HMGCL HLCS
2
Show member pathways
12.73 MMAA HMGCL HADH BDH2 ACAT1 ACAA2
3
Show member pathways
12.25 HADH ACAT2 ACAT1 ACAA2 ACAA1
4
Show member pathways
12.14 MAT1A HIBCH ACAT2 ACAT1
5
Show member pathways
11.7 HADH ACAA2 ACAA1
6
Show member pathways
11.63 HSD17B10 HADH ACAT2 ACAT1
7 11.58 HMGCL HIBCH HADH ACAA1
8
Show member pathways
11.52 MMAA HADH ACAA2
9 11.47 HADH ACAT2 ACAT1
10
Show member pathways
11.3 HSD17B10 HMGCL HIBCH HADH ACAT2 ACAT1
11
Show member pathways
11.28 HSD17B10 HADH ACAA2 ACAA1
12 11.16 HIBCH ACAT2 ACAT1
13
Show member pathways
11.14 HMGCL BDH2 ACAT1
14 11.04 ACAT2 ACAT1
15
Show member pathways
10.93 HMGCL HADH BDH2 ACAT2 ACAT1
16 10.9 HADH ACAA2
17 10.87 MMACHC MMAA

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 9.7 MMAA HSD17B10 HMGCL HLCS HIBCH HADH
2 mitochondrial matrix GO:0005759 9.23 MMAA HSD17B10 HMGCL HIBCH HADH ETFDH

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 9.85 MMACHC HSD17B10 HADH ETFDH BDH2
2 lipid metabolic process GO:0006629 9.8 HSD17B10 HMGCL HADH ACAT2 ACAT1 ACAA2
3 branched-chain amino acid catabolic process GO:0009083 9.5 HSD17B10 HIBCH ACAT1
4 cobalamin metabolic process GO:0009235 9.43 MMACHC MMAA
5 fatty acid metabolic process GO:0006631 9.43 HSD17B10 HADH ACAT2 ACAT1 ACAA2 ACAA1
6 isoleucine catabolic process GO:0006550 9.4 HSD17B10 ACAT1
7 cobalamin biosynthetic process GO:0009236 9.37 MMACHC MMAA
8 ketone body biosynthetic process GO:0046951 9.33 HMGCL BDH2 ACAT1
9 fatty acid beta-oxidation GO:0006635 9.17 HSD17B10 HADH BDH2 ACAT2 ACAT1 ACAA2

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 9.98 MMACHC MAT1A HADH ACAT2 ACAT1 ACAA2
2 oxidoreductase activity GO:0016491 9.8 MMACHC HSD17B10 HADH ETFDH BDH2
3 catalytic activity GO:0003824 9.63 HMGCL HLCS ACAT2 ACAT1 ACAA2 ACAA1
4 transferase activity, transferring acyl groups GO:0016746 9.56 ACAT2 ACAT1 ACAA2 ACAA1
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.37 HSD17B10 HADH
6 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 ACAA2 ACAA1
7 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 ACAT2 ACAT1 ACAA2 ACAA1
8 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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