3KTD
MCID: ALP077
MIFTS: 45

Alpha-Methylacetoacetic Aciduria (3KTD)

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

Aliases & Classifications for Alpha-Methylacetoacetic Aciduria

MalaCards integrated aliases for Alpha-Methylacetoacetic Aciduria:

Name: Alpha-Methylacetoacetic Aciduria 58 26 38 13
Beta-Ketothiolase Deficiency 58 12 26 60 56 15
3-Ketothiolase Deficiency 58 12 54 26 60 76
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 58 12 54 26
3-Oxothiolase Deficiency 58 12 54 60
Alpha-Methylacetoaceticaciduria 12 54 76
Mat Deficiency 58 77 26
T2 Deficiency 58 26 60
2-Methyl-3-Hydroxybutyricacidemia 12 54
Beta Ketothiolase Deficiency 77 54
Pseudo-Zellweger Syndrome 45 74
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 26
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 60
Hepatic Methionine Adenosyltransferase Deficiency 74
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 60
Bifunctional Peroxisomal Enzyme Deficiency 74
Deficiency of Acetyl-Coa Acetyltransferase 74
Deficiency of Acetyl-Coa Acyltransferase 74
2-Alpha-Methyl-3-Hydroxybutyricacidemia 26
2-Methyl-3-Hydroxybutyric Acidemia 58
Aciduria, Alpha-Methylacetoacetic 41
Alpha Methylacetoacetic Aciduria 60
Peroxisomal Thiolase Deficiency 12
3-Alpha-Ketothiolase Deficiency 26
3-Methylhydroxybutyric Acidemia 26
3-Alpha-Oxothiolase Deficiency 26
3-Alpha-Ktd Deficiency 26
3-Ktd Deficiency 58
3ktd 76
Bkt 26

Characteristics:

Orphanet epidemiological data:

60
beta-ketothiolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent;

OMIM:

58
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:

33
alpha-methylacetoacetic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:14723
OMIM 58 203750
KEGG 38 H01076
ICD10 via Orphanet 35 E71.1
UMLS via Orphanet 75 C1536500
Orphanet 60 ORPHA134
MedGen 43 C1536500

Summaries for Alpha-Methylacetoacetic Aciduria

NIH Rare Diseases : 54 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, and related phenotypes are intellectual disability and dehydration

Disease Ontology : 12 An autosomal recessive disease 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 : 26 Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

Related Diseases for Alpha-Methylacetoacetic Aciduria

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



Diseases related to Alpha-Methylacetoacetic Aciduria

Symptoms & Phenotypes for Alpha-Methylacetoacetic Aciduria

Human phenotypes related to Alpha-Methylacetoacetic Aciduria:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 dehydration 33 HP:0001944
3 vomiting 33 HP:0002013
4 episodic ketoacidosis 33 HP:0005974

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Brain

Publications for Alpha-Methylacetoacetic Aciduria

Articles related to Alpha-Methylacetoacetic Aciduria:

(show top 50) (show all 54)
# Title Authors Year
1
Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome. ( 30409570 )
2019
2
Beta-ketothiolase deficiency in a Malaysian infant. ( 31079130 )
2019
3
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. ( 28726122 )
2018
4
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature. ( 30026775 )
2018
5
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. ( 27928777 )
2017
6
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. ( 28220263 )
2017
7
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. ( 29624230 )
2017
8
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. ( 27264805 )
2016
9
NMR-based urinalysis for beta-ketothiolase deficiency. ( 25195009 )
2015
10
MRI of pallidal involvement in Beta-ketothiolase deficiency. ( 23163837 )
2014
11
Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. ( 23958592 )
2014
12
Beta-ketothiolase deficiency and pregnancy. ( 23664791 )
2013
13
A treatable new cause of chorea: beta-ketothiolase deficiency. ( 23818432 )
2013
14
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. ( 23430882 )
2012
15
Beta-ketothiolase deficiency brought with lethargy: case report. ( 21247997 )
2011
16
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. ( 11914035 )
2002
17
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
18
Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations. ( 10677294 )
2000
19
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. ( 9700610 )
1998
20
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. ( 9744475 )
1998
21
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. ( 9482646 )
1998
22
Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene. ( 9042912 )
1997
23
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. ( 9183994 )
1997
24
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. ( 9090533 )
1997
25
Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. ( 8770875 )
1996
26
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. ( 9001814 )
1996
27
Isolated persistent hypermethioninemia. ( 7573050 )
1995
28
Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. ( 7560086 )
1995
29
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. ( 7728155 )
1995
30
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. ( 7749408 )
1995
31
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. ( 7520129 )
1994
32
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. ( 7907600 )
1994
33
Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families. ( 8103405 )
1993
34
Beta-ketothiolase deficiency. A case report. ( 1509529 )
1992
35
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. ( 1627655 )
1992
36
Persistent hypermethioninaemia with dominant inheritance. ( 1527987 )
1992
37
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. ( 1346617 )
1992
38
Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. ( 1373235 )
1992
39
Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway. ( 1683972 )
1991
40
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency. ( 1715688 )
1991
41
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man. ( 3812486 )
1987
42
beta-Ketothiolase deficiency with favourable evolution. ( 3126364 )
1987
43
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. ( 3435793 )
1987
44
Two cases of beta-ketothiolase deficiency: a comparison. ( 6434866 )
1984
45
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. ( 6133567 )
1983
46
A case of beta-ketothiolase deficiency. ( 6422156 )
1983
47
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia. ( 7059658 )
1982
48
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. ( 7173255 )
1982
49
Hypermethioninemia associated with methionine adenosyltransferase deficiency: clinical, morphologic, and biochemical observations on four patients. ( 7229751 )
1981
50
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. ( 7299555 )
1981

Variations for Alpha-Methylacetoacetic Aciduria

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

76
# 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

ClinVar genetic disease variations for Alpha-Methylacetoacetic Aciduria:

6 (show top 50) (show all 333)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh37 Chromosome 10, 82034395: 82034395
2 MAT1A NM_000429.2(MAT1A): c.966T> G (p.Ile322Met) single nucleotide variant Pathogenic rs118204001 GRCh38 Chromosome 10, 80274639: 80274639
3 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh37 Chromosome 10, 82045273: 82045273
4 MAT1A NM_000429.2(MAT1A): c.164C> A (p.Ala55Asp) single nucleotide variant Pathogenic rs118204002 GRCh38 Chromosome 10, 80285517: 80285517
5 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh37 Chromosome 10, 82034291: 82034291
6 MAT1A NM_000429.2(MAT1A): c.1070C> T (p.Pro357Leu) single nucleotide variant Pathogenic rs118204003 GRCh38 Chromosome 10, 80274535: 80274535
7 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh37 Chromosome 10, 82034810: 82034810
8 MAT1A NM_000429.2(MAT1A): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs118204004 GRCh38 Chromosome 10, 80275054: 80275054
9 MAT1A MAT1A, 1-BP INS, 827G insertion Pathogenic
10 MAT1A MAT1A, 2-BP DEL, 1043TG deletion Pathogenic
11 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh37 Chromosome 10, 82034933: 82034933
12 MAT1A NM_000429.2(MAT1A): c.791G> A (p.Arg264His) single nucleotide variant Pathogenic rs72558181 GRCh38 Chromosome 10, 80275177: 80275177
13 MAT1A MAT1A, 2-BP INS, 539TG insertion Pathogenic
14 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh37 Chromosome 10, 82034934: 82034934
15 MAT1A NM_000429.2(MAT1A): c.790C> T (p.Arg264Cys) single nucleotide variant Pathogenic rs118204005 GRCh38 Chromosome 10, 80275178: 80275178
16 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh37 Chromosome 10, 82034355: 82034355
17 MAT1A NM_000429.2(MAT1A): c.1006G> A (p.Gly336Arg) single nucleotide variant Pathogenic rs118204006 GRCh38 Chromosome 10, 80274599: 80274599
18 ACAT1 NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr) single nucleotide variant Pathogenic rs120074140 GRCh37 Chromosome 11, 108017061: 108017061
19 ACAT1 NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr) single nucleotide variant Pathogenic rs120074140 GRCh38 Chromosome 11, 108146334: 108146334
20 ACAT1 NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg) single nucleotide variant Pathogenic rs120074141 GRCh37 Chromosome 11, 108009736: 108009736
21 ACAT1 NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg) single nucleotide variant Pathogenic rs120074141 GRCh38 Chromosome 11, 108139009: 108139009
22 ACAT1 NM_000019.3(ACAT1): c.1006-2A> C single nucleotide variant Pathogenic rs145229472 GRCh38 Chromosome 11, 108146200: 108146200
23 ACAT1 NM_000019.3(ACAT1): c.1006-2A> C single nucleotide variant Pathogenic rs145229472 GRCh37 Chromosome 11, 108016927: 108016927
24 ACAT1 NM_000019.3(ACAT1): c.1163+2T> C single nucleotide variant Pathogenic rs1280110907 GRCh38 Chromosome 11, 108146361: 108146361
25 ACAT1 NM_000019.3(ACAT1): c.1163+2T> C single nucleotide variant Pathogenic rs1280110907 GRCh37 Chromosome 11, 108017088: 108017088
26 ACAT1 NM_000019.3(ACAT1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs120074142 GRCh37 Chromosome 11, 107992335: 107992335
27 ACAT1 NM_000019.3(ACAT1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs120074142 GRCh38 Chromosome 11, 108121608: 108121608
28 ACAT1 NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val) single nucleotide variant Pathogenic rs120074143 GRCh37 Chromosome 11, 108017059: 108017059
29 ACAT1 NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val) single nucleotide variant Pathogenic rs120074143 GRCh38 Chromosome 11, 108146332: 108146332
30 ACAT1 NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs120074144 GRCh37 Chromosome 11, 108012415: 108012415
31 ACAT1 NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs120074144 GRCh38 Chromosome 11, 108141688: 108141688
32 ACAT1 NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del) deletion Pathogenic rs387906282 GRCh37 Chromosome 11, 108016956: 108016958
33 ACAT1 NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del) deletion Pathogenic rs387906282 GRCh38 Chromosome 11, 108146229: 108146231
34 ACAT1 NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs) duplication Pathogenic rs387906283 GRCh37 Chromosome 11, 108017006: 108017006
35 ACAT1 NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs) duplication Pathogenic rs387906283 GRCh38 Chromosome 11, 108146279: 108146279
36 ACAT1 NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs120074145 GRCh37 Chromosome 11, 108004987: 108004987
37 ACAT1 NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs120074145 GRCh38 Chromosome 11, 108134260: 108134260
38 ACAT1 NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr) single nucleotide variant Pathogenic rs120074146 GRCh37 Chromosome 11, 108013272: 108013272
39 ACAT1 NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr) single nucleotide variant Pathogenic rs120074146 GRCh38 Chromosome 11, 108142545: 108142545
40 ACAT1 NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs120074147 GRCh37 Chromosome 11, 108014766: 108014766
41 ACAT1 NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs120074147 GRCh38 Chromosome 11, 108144039: 108144039
42 ACAT1 NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu) single nucleotide variant Pathogenic rs120074148 GRCh37 Chromosome 11, 108005967: 108005967
43 ACAT1 NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu) single nucleotide variant Pathogenic rs120074148 GRCh38 Chromosome 11, 108135240: 108135240
44 ACAT1 NM_000019.3(ACAT1): c.-9T> A single nucleotide variant Benign rs3741055 GRCh37 Chromosome 11, 107992325: 107992325
45 ACAT1 NM_000019.3(ACAT1): c.-9T> A single nucleotide variant Benign rs3741055 GRCh38 Chromosome 11, 108121598: 108121598
46 ACAT1 NM_000019.3(ACAT1): c.13G> C (p.Ala5Pro) single nucleotide variant Benign rs3741056 GRCh37 Chromosome 11, 107992346: 107992346
47 ACAT1 NM_000019.3(ACAT1): c.13G> C (p.Ala5Pro) single nucleotide variant Benign rs3741056 GRCh38 Chromosome 11, 108121619: 108121619
48 ACAT1 NM_000019.3(ACAT1): c.471C> A (p.Ser157=) single nucleotide variant Benign/Likely benign rs35188041 GRCh37 Chromosome 11, 108009660: 108009660
49 ACAT1 NM_000019.3(ACAT1): c.471C> A (p.Ser157=) single nucleotide variant Benign/Likely benign rs35188041 GRCh38 Chromosome 11, 108138933: 108138933
50 ACAT1 NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp) single nucleotide variant Pathogenic/Likely pathogenic rs148639841 GRCh37 Chromosome 11, 108009661: 108009661

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:

38
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Synthesis and degradation of ketone bodies hsa00072

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 ACAA2 ACADSB ACAT1 ACAT2 ETFA HSD17B10
2 peroxisome GO:0005777 9.33 ACAA1 PEX2 PEX6
3 mitochondrial matrix GO:0005759 9.1 ACAA2 ACADSB ACAT1 ETFA HSD17B10 MMUT

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 9.72 ACAA1 ACAA2 ACADSB ACAT2 HSD17B10
2 fatty acid metabolic process GO:0006631 9.63 ACAA1 ACAA2 ACADSB
3 peroxisome organization GO:0007031 9.43 PEX2 PEX6
4 cobalamin metabolic process GO:0009235 9.4 LMBRD1 MMUT
5 very long-chain fatty acid metabolic process GO:0000038 9.37 ACAA1 PEX2
6 protein targeting to peroxisome GO:0006625 9.33 ACAA1 PEX2 PEX6
7 protein import into peroxisome matrix GO:0016558 9.26 PEX2 PEX6
8 branched-chain amino acid catabolic process GO:0009083 9.13 ACADSB ACAT1 HSD17B10
9 fatty acid beta-oxidation GO:0006635 9.02 ACAA1 ACAA2 ACAT1 ACAT2 PEX2

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 9.71 ACAA1 ACAA2 ACAT1 FTCD
2 transferase activity, transferring acyl groups GO:0016746 9.56 ACAA1 ACAA2 ACAT1 ACAT2
3 sulfuric ester hydrolase activity GO:0008484 9.43 ARSH GALNS
4 cobalamin binding GO:0031419 9.37 LMBRD1 MMUT
5 acetyl-CoA C-acetyltransferase activity GO:0003985 9.33 ACAA2 ACAT1 ACAT2
6 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 ACAA1 ACAA2 ACAT1 ACAT2
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.02 HSD17B10
8 acetyl-CoA C-acyltransferase activity GO:0003988 8.92 ACAA1 ACAA2 ACAT1 ACAT2

Sources for Alpha-Methylacetoacetic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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