MCID: ALP077
MIFTS: 41

Alpha-Methylacetoacetic Aciduria

Categories: Genetic diseases, Rare diseases, Metabolic 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
T2 Deficiency 57 25 59
2-Methyl-3-Hydroxybutyricacidemia 12 53
Beta Ketothiolase Deficiency 76 53
Pseudo-Zellweger Syndrome 44 73
Mat Deficiency 57 25
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
Β-Ketothiolase 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
SNOMED-CT 68 238067002
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
Abdomen Gastrointestinal:
vomiting

Metabolic Features:
ketoacidosis, episodic
dehydration

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

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

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 30)
# Title Authors Year
1
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. ( 28726122 )
2017
2
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10A years' experience of a medical center in northern Vietnam. ( 28220263 )
2017
3
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency. ( 27928777 )
2016
4
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. ( 27264805 )
2016
5
NMR-based urinalysis for beta-ketothiolase deficiency. ( 25195009 )
2014
6
A treatable new cause of chorea: beta-ketothiolase deficiency. ( 23818432 )
2013
7
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India. ( 23958592 )
2013
8
Beta-ketothiolase deficiency and pregnancy. ( 23664791 )
2013
9
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency. ( 23163837 )
2012
10
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
11
Beta-ketothiolase deficiency brought with lethargy: case report. ( 21247997 )
2011
12
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
13
Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy. ( 9700610 )
1998
14
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
15
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses. ( 9183994 )
1997
16
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
17
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
18
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. ( 7749408 )
1995
19
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency. ( 7520129 )
1994
20
Beta-ketothiolase deficiency. A case report. ( 1509529 )
1992
21
beta-Ketothiolase deficiency with favourable evolution. ( 3126364 )
1987
22
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry. ( 3435793 )
1987
23
Two cases of beta-ketothiolase deficiency: a comparison. ( 6434866 )
1984
24
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency. ( 6133567 )
1983
25
A case of beta-ketothiolase deficiency. ( 6422156 )
1983
26
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
27
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. ( 7173255 )
1982
28
Congestive cardiomyopathy associated with beta-ketothiolase deficiency. ( 7299555 )
1981
29
Beta-ketothiolase deficiency as a cause of the &amp;quot;ketotic hyperglycinemia syndrome&amp;quot;. ( 4812006 )
1974
30
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 152)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAT1 NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr) single nucleotide variant Pathogenic rs120074140 GRCh37 Chromosome 11, 108017061: 108017061
2 ACAT1 NM_000019.3(ACAT1): c.1138G> A (p.Ala380Thr) single nucleotide variant Pathogenic rs120074140 GRCh38 Chromosome 11, 108146334: 108146334
3 ACAT1 NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg) single nucleotide variant Pathogenic rs120074141 GRCh37 Chromosome 11, 108009736: 108009736
4 ACAT1 NM_000019.3(ACAT1): c.547G> A (p.Gly183Arg) single nucleotide variant Pathogenic rs120074141 GRCh38 Chromosome 11, 108139009: 108139009
5 ACAT1 NM_000019.3(ACAT1): c.1006-2A> C single nucleotide variant Pathogenic rs145229472 GRCh38 Chromosome 11, 108146200: 108146200
6 ACAT1 NM_000019.3(ACAT1): c.1006-2A> C single nucleotide variant Pathogenic rs145229472 GRCh37 Chromosome 11, 108016927: 108016927
7 ACAT1 NM_000019.3(ACAT1): c.1163+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 11, 108146361: 108146361
8 ACAT1 NM_000019.3(ACAT1): c.1163+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 11, 108017088: 108017088
9 ACAT1 NM_000019.3(ACAT1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs120074142 GRCh37 Chromosome 11, 107992335: 107992335
10 ACAT1 NM_000019.3(ACAT1): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs120074142 GRCh38 Chromosome 11, 108121608: 108121608
11 ACAT1 NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val) single nucleotide variant Pathogenic rs120074143 GRCh37 Chromosome 11, 108017059: 108017059
12 ACAT1 NM_000019.3(ACAT1): c.1136G> T (p.Gly379Val) single nucleotide variant Pathogenic rs120074143 GRCh38 Chromosome 11, 108146332: 108146332
13 ACAT1 NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs120074144 GRCh37 Chromosome 11, 108012415: 108012415
14 ACAT1 NM_000019.3(ACAT1): c.814C> T (p.Gln272Ter) single nucleotide variant Pathogenic rs120074144 GRCh38 Chromosome 11, 108141688: 108141688
15 ACAT1 NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del) deletion Pathogenic rs387906282 GRCh37 Chromosome 11, 108016956: 108016958
16 ACAT1 NM_000019.3(ACAT1): c.1033_1035delGAA (p.Glu345del) deletion Pathogenic rs387906282 GRCh38 Chromosome 11, 108146229: 108146231
17 ACAT1 NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs) duplication Pathogenic rs387906283 GRCh37 Chromosome 11, 108017006: 108017006
18 ACAT1 NM_000019.3(ACAT1): c.1083dupA (p.Ala362Serfs) duplication Pathogenic rs387906283 GRCh38 Chromosome 11, 108146279: 108146279
19 ACAT1 NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs120074145 GRCh37 Chromosome 11, 108004987: 108004987
20 ACAT1 NM_000019.3(ACAT1): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs120074145 GRCh38 Chromosome 11, 108134260: 108134260
21 ACAT1 NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr) single nucleotide variant Pathogenic rs120074146 GRCh37 Chromosome 11, 108013272: 108013272
22 ACAT1 NM_000019.3(ACAT1): c.935T> C (p.Ile312Thr) single nucleotide variant Pathogenic rs120074146 GRCh38 Chromosome 11, 108142545: 108142545
23 ACAT1 NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs120074147 GRCh37 Chromosome 11, 108014766: 108014766
24 ACAT1 NM_000019.3(ACAT1): c.997G> C (p.Ala333Pro) single nucleotide variant Pathogenic rs120074147 GRCh38 Chromosome 11, 108144039: 108144039
25 ACAT1 NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu) single nucleotide variant Pathogenic rs120074148 GRCh37 Chromosome 11, 108005967: 108005967
26 ACAT1 NM_000019.3(ACAT1): c.433C> G (p.Gln145Glu) single nucleotide variant Pathogenic rs120074148 GRCh38 Chromosome 11, 108135240: 108135240
27 ACAT1 NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp) single nucleotide variant Pathogenic rs148639841 GRCh37 Chromosome 11, 108009661: 108009661
28 ACAT1 NM_000019.3(ACAT1): c.472A> G (p.Asn158Asp) single nucleotide variant Pathogenic rs148639841 GRCh38 Chromosome 11, 108138934: 108138934
29 ACAT1 NM_000019.3(ACAT1): c.730+2T> C single nucleotide variant Pathogenic rs398123096 GRCh37 Chromosome 11, 108010944: 108010944
30 ACAT1 NM_000019.3(ACAT1): c.730+2T> C single nucleotide variant Pathogenic rs398123096 GRCh38 Chromosome 11, 108140217: 108140217
31 ACAT1 NM_000019.3(ACAT1): c.905delA (p.Lys302Argfs) deletion Pathogenic rs398123097 GRCh37 Chromosome 11, 108013242: 108013242
32 ACAT1 NM_000019.3(ACAT1): c.905delA (p.Lys302Argfs) deletion Pathogenic rs398123097 GRCh38 Chromosome 11, 108142515: 108142515
33 ACAT1 NM_000019.3(ACAT1): c.-15C> G single nucleotide variant Benign/Likely benign rs113348145 GRCh37 Chromosome 11, 107992319: 107992319
34 ACAT1 NM_000019.3(ACAT1): c.-15C> G single nucleotide variant Benign/Likely benign rs113348145 GRCh38 Chromosome 11, 108121592: 108121592
35 ACAT1 NM_000019.3(ACAT1): c.444_445delGG (p.Met148Ilefs) deletion Pathogenic/Likely pathogenic rs727503795 GRCh37 Chromosome 11, 108009633: 108009634
36 ACAT1 NM_000019.3(ACAT1): c.444_445delGG (p.Met148Ilefs) deletion Pathogenic/Likely pathogenic rs727503795 GRCh38 Chromosome 11, 108138906: 108138907
37 ACAT1 NM_000019.3(ACAT1): c.826+1G> T single nucleotide variant Pathogenic rs727503796 GRCh37 Chromosome 11, 108012428: 108012428
38 ACAT1 NM_000019.3(ACAT1): c.826+1G> T single nucleotide variant Pathogenic rs727503796 GRCh38 Chromosome 11, 108141701: 108141701
39 ACAT1 NM_000019.3(ACAT1): c.1006-4_1006-1delinsAAA indel Pathogenic rs797044633 GRCh37 Chromosome 11, 108016925: 108016928
40 ACAT1 NM_000019.3(ACAT1): c.1006-4_1006-1delinsAAA indel Pathogenic rs797044633 GRCh38 Chromosome 11, 108146198: 108146201
41 ACAT1 NM_000019.3(ACAT1): c.203G> T (p.Gly68Val) single nucleotide variant Likely pathogenic rs794727475 GRCh37 Chromosome 11, 108004629: 108004629
42 ACAT1 NM_000019.3(ACAT1): c.203G> T (p.Gly68Val) single nucleotide variant Likely pathogenic rs794727475 GRCh38 Chromosome 11, 108133902: 108133902
43 ACAT1 NM_000019.3(ACAT1): c.436-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs3741050 GRCh37 Chromosome 11, 108009621: 108009621
44 ACAT1 NM_000019.3(ACAT1): c.436-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs3741050 GRCh38 Chromosome 11, 108138894: 108138894
45 ACAT1 NM_000019.3(ACAT1): c.455G> C (p.Gly152Ala) single nucleotide variant Likely pathogenic rs762991875 GRCh37 Chromosome 11, 108009644: 108009644
46 ACAT1 NM_000019.3(ACAT1): c.455G> C (p.Gly152Ala) single nucleotide variant Likely pathogenic rs762991875 GRCh38 Chromosome 11, 108138917: 108138917
47 ACAT1 NM_000019.3(ACAT1): c.473A> G (p.Asn158Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199524907 GRCh37 Chromosome 11, 108009662: 108009662
48 ACAT1 NM_000019.3(ACAT1): c.473A> G (p.Asn158Ser) single nucleotide variant Pathogenic/Likely pathogenic rs199524907 GRCh38 Chromosome 11, 108138935: 108138935
49 ACAT1 NM_000019.3(ACAT1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs370720208 GRCh37 Chromosome 11, 108010835: 108010835
50 ACAT1 NM_000019.3(ACAT1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs370720208 GRCh38 Chromosome 11, 108140108: 108140108

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
13.37 ACAA1 ACAD8 ACADSB ACAT1 HSD17B10 MAT1A
2
Show member pathways
13.12 ACAD8 ACADSB ACAT1 HSD17B10 MAT1A
3
Show member pathways
11.76 ACAT1 MAT1A
4
Show member pathways
11.65 ACAT1 HSD17B10
5
Show member pathways
11.1 ACAA1 ACADSB ACAT1
6
Show member pathways
11.09 ACAA1 HSD17B10
7
Show member pathways
11.09 ACAA1 ACAD8 ACADSB ACAT1 HSD17B10
8 10.27 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 9.26 ACAD8 ACADSB ACAT1 HSD17B10
2 mitochondrial matrix GO:0005759 8.92 ACAD8 ACADSB ACAT1 HSD17B10

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 9.54 ACAD8 ACADSB HSD17B10
2 lipid metabolic process GO:0006629 9.46 ACAA1 ACAD8 ACADSB HSD17B10
3 fatty acid metabolic process GO:0006631 9.4 ACAA1 ACADSB
4 protein homotetramerization GO:0051289 9.32 HSD17B10 MAT1A
5 fatty acid beta-oxidation GO:0006635 9.26 ACAA1 ACAT1
6 metabolic process GO:0008152 9.26 ACAA1 ACAD8 ACADSB ACAT1
7 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 9.54 ACAD8 ACADSB HSD17B10
2 transferase activity, transferring acyl groups GO:0016746 9.4 ACAA1 ACAT1
3 flavin adenine dinucleotide binding GO:0050660 9.32 ACAD8 ACADSB
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACAD8 ACADSB
5 transferase activity, transferring acyl groups other than amino-acyl groups GO:0016747 9.16 ACAA1 ACAT1
6 acyl-CoA dehydrogenase activity GO:0003995 8.96 ACAD8 ACADSB
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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