3KTD
MCID: ALP077
MIFTS: 47

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 57 25 37 13
Beta-Ketothiolase Deficiency 57 12 25 59 55 15
3-Ketothiolase Deficiency 57 12 53 25 59 75
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency 57 12 53 25
3-Oxothiolase Deficiency 57 12 53 59
Alpha-Methylacetoaceticaciduria 12 53 75
Mat Deficiency 57 76 25
T2 Deficiency 57 25 59
2-Methyl-3-Hydroxybutyricacidemia 12 53
Beta Ketothiolase Deficiency 76 53
Pseudo-Zellweger Syndrome 44 73
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated 25
Mitochondrial Acetoacetyl-Coenzyme a Thiolase Deficiency 59
Hepatic Methionine Adenosyltransferase Deficiency 73
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency 59
Bifunctional Peroxisomal Enzyme Deficiency 73
Deficiency of Acetyl-Coa Acetyltransferase 73
Deficiency of Acetyl-Coa Acyltransferase 73
2-Alpha-Methyl-3-Hydroxybutyricacidemia 25
2-Methyl-3-Hydroxybutyric Acidemia 57
Aciduria, Alpha-Methylacetoacetic 40
Alpha Methylacetoacetic Aciduria 59
Peroxisomal Thiolase Deficiency 12
3-Alpha-Ketothiolase Deficiency 25
3-Methylhydroxybutyric Acidemia 25
3-Alpha-Oxothiolase Deficiency 25
3-Alpha-Ktd Deficiency 25
3-Ktd Deficiency 57
3ktd 75
Bkt 25

Characteristics:

Orphanet epidemiological data:

59
beta-ketothiolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Australia); Age of onset: Infancy; Age of death: adolescent;

OMIM:

57
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:

32
alpha-methylacetoacetic aciduria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 203750
Disease Ontology 12 DOID:14723
Orphanet 59 ORPHA134
UMLS via Orphanet 74 C1536500
ICD10 via Orphanet 34 E71.1
MedGen 42 C1536500
KEGG 37 H01076

Summaries for Alpha-Methylacetoacetic Aciduria

NIH Rare Diseases : 53 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 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. Related phenotypes are intellectual disability and dehydration

Genetics Home Reference : 25 Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

OMIM : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alpha-Methylacetoacetic Aciduria:

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

UMLS symptoms related to Alpha-Methylacetoacetic Aciduria:


vomiting

MGI Mouse Phenotypes related to Alpha-Methylacetoacetic Aciduria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 ACAD8 HSD17B4 MAT1A PEX5 SLC25A13

Drugs & Therapeutics for Alpha-Methylacetoacetic Aciduria

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

Cochrane evidence based reviews: pseudo-zellweger syndrome

Genetic Tests for Alpha-Methylacetoacetic Aciduria

Anatomical Context for Alpha-Methylacetoacetic Aciduria

Publications for Alpha-Methylacetoacetic Aciduria

Articles related to Alpha-Methylacetoacetic Aciduria:

(show all 33)
# Title Authors Year
1
Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome. ( 30409570 )
2018
2
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature. ( 30026775 )
2018
3
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. ( 28726122 )
2017
4
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10A years' experience of a medical center in northern Vietnam. ( 28220263 )
2017
5
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. ( 29624230 )
2017
6
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. ( 27928777 )
2016
7
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. ( 27264805 )
2016
8
NMR-based urinalysis for beta-ketothiolase deficiency. ( 25195009 )
2014
9
A treatable new cause of chorea: beta-ketothiolase deficiency. ( 23818432 )
2013
10
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. ( 23958592 )
2013
11
Beta-ketothiolase deficiency and pregnancy. ( 23664791 )
2013
12
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. ( 23163837 )
2012
13
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A&amp;gt;C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry. ( 23430882 )
2012
14
Beta-ketothiolase deficiency brought with lethargy: case report. ( 21247997 )
2011
15
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
16
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. ( 9700610 )
1998
17
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
18
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. ( 9183994 )
1997
19
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
20
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
21
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. ( 7749408 )
1995
22
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. ( 7520129 )
1994
23
Beta-ketothiolase deficiency. A case report. ( 1509529 )
1992
24
beta-Ketothiolase deficiency with favourable evolution. ( 3126364 )
1987
25
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. ( 3435793 )
1987
26
Two cases of beta-ketothiolase deficiency: a comparison. ( 6434866 )
1984
27
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. ( 6133567 )
1983
28
A case of beta-ketothiolase deficiency. ( 6422156 )
1983
29
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
30
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. ( 7173255 )
1982
31
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. ( 7299555 )
1981
32
Beta-ketothiolase deficiency as a cause of the &amp;quot;ketotic hyperglycinemia syndrome&amp;quot;. ( 4812006 )
1974
33
A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. ( 4434646 )
1974

Variations for Alpha-Methylacetoacetic Aciduria

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

75
# 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
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 561)
# 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 GRCh38 Chromosome 11, 108146361: 108146361
25 ACAT1 NM_000019.3(ACAT1): c.1163+2T> C single nucleotide variant Pathogenic 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 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic GRCh37 Chromosome 5, 118837736: 118837787
45 HSD17B4 NM_000414.3(HSD17B4): c.1210_1261del52 (p.Val404Glufs) deletion Pathogenic GRCh38 Chromosome 5, 119502041: 119502092
46 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic GRCh37 Chromosome 5, 118835012: 118835248
47 HSD17B4 NM_000414.3(HSD17B4): c.973_1209del237 (p.Ala325_Lys403del) deletion Pathogenic GRCh38 Chromosome 5, 119499317: 119499553
48 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh37 Chromosome 5, 118788316: 118788316
49 HSD17B4 NM_000414.3(HSD17B4): c.46G> A (p.Gly16Ser) single nucleotide variant Pathogenic/Likely pathogenic rs137853096 GRCh38 Chromosome 5, 119452621: 119452621
50 HSD17B4 NM_000414.3(HSD17B4): c.1369A> T (p.Asn457Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs137853097 GRCh37 Chromosome 5, 118844871: 118844871

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:

37
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 ACAA1 ACAD8 ACADSB ACAT1 HSD17B10 HSD17B4
2
Show member pathways
11.4 ACAA1 ACADSB ACAT1
3 11.18 ACAA1 HSD17B4 PEX16 PEX5
4
Show member pathways
11.16 ACAA1 HSD17B4
5
Show member pathways
11.1 ACAA1 ACAD8 ACADSB ACAT1 HSD17B10
6
Show member pathways
11.06 ACAA1 HSD17B10 HSD17B4
7
Show member pathways
11.05 ACAA1 HSD17B4
8 10.44 ACADSB HSD17B10

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 9.63 ACAD8 ACADSB ACAT1 HSD17B10 PEX5 SLC25A13
2 mitochondrial matrix GO:0005759 9.56 ACAD8 ACADSB ACAT1 HSD17B10
3 peroxisomal matrix GO:0005782 9.32 ACAA1 HSD17B4
4 peroxisomal membrane GO:0005778 9.13 HSD17B4 PEX16 PEX5
5 peroxisome GO:0005777 8.92 ACAA1 HSD17B4 PEX16 PEX5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 ACAD8 ACADSB HSD17B10 HSD17B4
2 fatty acid metabolic process GO:0006631 9.65 ACAA1 ACADSB HSD17B4
3 lipid metabolic process GO:0006629 9.65 ACAA1 ACAD8 ACADSB HSD17B10 HSD17B4
4 protein homotetramerization GO:0051289 9.52 HSD17B10 MAT1A
5 peroxisome organization GO:0007031 9.49 PEX16 PEX5
6 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 9.46 ACAA1 HSD17B4
7 protein targeting to peroxisome GO:0006625 9.46 ACAA1 HSD17B4 PEX16 PEX5
8 alpha-linolenic acid metabolic process GO:0036109 9.43 ACAA1 HSD17B4
9 very long-chain fatty acid metabolic process GO:0000038 9.4 ACAA1 HSD17B4
10 protein import into peroxisome matrix GO:0016558 9.37 PEX16 PEX5
11 protein import into peroxisome membrane GO:0045046 9.32 PEX16 PEX5
12 fatty acid beta-oxidation GO:0006635 9.26 ACAA1 ACAT1 HSD17B4 PEX5
13 branched-chain amino acid catabolic process GO:0009083 8.92 ACAD8 ACADSB ACAT1 HSD17B10

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.67 ACAD8 ACADSB HSD17B10 HSD17B4
2 flavin adenine dinucleotide binding GO:0050660 9.4 ACAD8 ACADSB
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 ACAD8 ACADSB
4 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.26 ACAA1 ACAT1
5 acyl-CoA dehydrogenase activity GO:0003995 9.16 ACAD8 ACADSB
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.96 HSD17B10 HSD17B4
7 acetyl-CoA C-acyltransferase activity GO:0003988 8.62 ACAA1 ACAT1

Sources for Alpha-Methylacetoacetic Aciduria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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