MCID: ORG002
MIFTS: 43

Organic Acidemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Organic Acidemia

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Disease Ontology:8 An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.

MalaCards based summary: Organic Acidemia, also known as organic acid metabolism disorder, is related to isovaleric acidemia and maple syrup urine disease. An important gene associated with Organic Acidemia is MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria), and among its related pathways are Lysine degradation and Mitochondrial LC-Fatty Acid Beta-Oxidation. The compounds 3-hydroxyglutaric acid and FADH have been mentioned in the context of this disorder.

Wikipedia:65 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Aliases & Classifications for Organic Acidemia

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Organic Acidemia, Aliases & Descriptions:

Name: Organic Acidemia 8 42 20 10
Organic Acid Metabolism Disorder 8 22 62
Organic Aciduria 8 62
 
Organic Acidemias 62
Aciduria Organic 44


Classifications:



External Ids:

Disease Ontology8 DOID:0060159

Related Diseases for Organic Acidemia

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Diseases related to Organic Acidemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1isovaleric acidemia30.8HMGCL, IVD
2maple syrup urine disease30.5BTD, HMGCL
3homocystinuria30.2MMACHC, BTD, HMGCL
4holocarboxylase synthetase deficiency30.2BTD, HLCS
5multiple carboxylase deficiency30.0HLCS, PC, BTD
6methylmalonic acidemia30.0HMGCL, PC, HLCS
7lactic acidosis29.9BTD, PC
8propionic acidemia29.9HLCS, PCCB, PCCA, HMGCL
9hypoglycemia29.5HMGCL, BTD, PC, HLCS
10the organic acidemias: an10.3
11succinic acidemia10.2
12fatty acid oxidation disorders10.2
13beta-ketothiolase deficiency10.2HMGCL, ACAT1
14acrodermatitis10.2
153 methylcrotonyl-coa carboxylase 1 deficiency10.1HMGCL, MCCC2, MCCC1
16diabetes mellitus10.1
17neonatal diabetes mellitus10.1
182-methylbutyryl-coa dehydrogenase deficiency10.1
19aminoacidopathies10.1
20glutathione synthetase deficiency10.1
21biotinidase deficiency10.1HLCS, BTD
22reye syndrome10.0HMGCL, PC
23hyperammonemia multi-gene panels10.0HMGCL, PC
24hepatitis10.0
25pearson syndrome10.0
26urea cycle disorder10.0
27barth syndrome10.0
28mevalonic aciduria10.0
29acrodermatitis enteropathica10.0
30cerebritis10.0
31diarrhea10.0
32hydrophthalmos10.0
33short-chain acyl-coa dehydrogenase deficiency10.0
34enteropathica10.0
35jamaican vomiting sickness10.0
3617-beta-hydroxysteroid dehydrogenase x deficiency10.0
37mental retardation10.0
38floppy infant syndrome10.0
39glutaric acidemia iic10.0
40brain disease10.0GCDH, BTD, PC
41metabolic acidosis9.6HMGCL, BTD, PC, HLCS
42metabolic syndrome x9.2HLCS, ACAT1, PCCB, PC, PCCA, BTD

Graphical network of the top 20 diseases related to Organic Acidemia:



Diseases related to organic acidemia

Symptoms for Organic Acidemia

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Drugs & Therapeutics for Organic Acidemia

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Drug clinical trials:

Search ClinicalTrials for Organic Acidemia

Search NIH Clinical Center for Organic Acidemia

Genetic Tests for Organic Acidemia

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Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Organic Acidemias20
2 Disorder of Organic Acid Metabolism22

Anatomical Context for Organic Acidemia

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Animal Models for Organic Acidemia or affiliated genes

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Publications for Organic Acidemia

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Articles related to Organic Acidemia:

(show all 19)
idTitleAuthorsYear
1
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. (23524598)
2013
2
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. (23994778)
2013
3
Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia. (23783767)
2013
4
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. (21970506)
2012
5
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. (17301002)
2007
6
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. (10785335)
2000
7
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. (10598689)
1999
8
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. (11400763)
1999
9
A case study: organic acidemia. (7823796)
1994
10
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. (7726376)
1994
11
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. (7726385)
1994
12
The Organic Acidemias: An Overview (20301313)
1993
13
Diagnosis of organic acidemia in developing countries. (1790621)
1991
14
Succinic acidemia is not a new syndrome of organic acidemia. (2387080)
1990
15
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. (3383430)
1988
16
Quick screening and diagnosis of organic acidemia by NMR urinalysis. (3981318)
1985
17
Transient hyperammonemias in infants with and without organic acidemia. (7164908)
1982
18
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (7365583)
1980
19
Short-chain organic acidemia and Reye's syndrome. (1167641)
1975

Variations for Organic Acidemia

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Expression for genes affiliated with Organic Acidemia

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Expression patterns in normal tissues for genes affiliated with Organic Acidemia

Search GEO for disease gene expression data for Organic Acidemia.

Pathways for genes affiliated with Organic Acidemia

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Pathways related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GCDH, ACAT1
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
9.9GCDH, ACAT1
3
Show member pathways
9.9GCDH, ACAT1
4
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
9.9GCDH, ACAT1
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)37
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA37
tryptophan degradation37
glutaryl-CoA degradation37
serotonin degradation37
NAD de novo biosynthesis37
superpathway of melatonin degradation37
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde37
tryptophan utilization I37
melatonin degradation I37
9.9ACAT1, GCDH
69.8BTD, MMACHC
7
Show member pathways
Synthesis and Degradation of Ketone Bodies37
ketolysis37
9.8HMGCL, ACAT1
8
Show member pathways
9.8ACAT1, HMGCL
9
Show member pathways
methylglyoxal degradation VI37
methylglyoxal degradation I37
9.5ACAT1, PC
109.3IVD, MCCC1, MCCC2
119.3HLCS, BTD
129.1PCCA, PCCB, ACAT1
13
Show member pathways
8.8ACAT1, PCCB, PCCA, HMGCL
14
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.7GCDH, ACAT1, MCCC2, MCCC1, IVD
15
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
8.5ACAT1, PCCB, PC, PCCA
16
Show member pathways
beta-alanine degradation I37
valine degradation I37
pyruvate fermentation to lactate37
isoleucine degradation I37
7.6IVD, MCCC1, MCCC2, ACAT1, PCCB, PCCA
176.5HLCS, MCCC1, MCCC2, MMACHC, PCCB, PC
18
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
6.5BTD, HLCS, PCCA, PC, PCCB, MMACHC
19
Show member pathways
5.2HLCS, IVD, MCCC1, MCCC2, MMACHC, ACAT1

Compounds for genes affiliated with Organic Acidemia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
13-hydroxyglutaric acid44 1111.1HMGCL, GCDH
2FADH249.9GCDH, IVD
3(E)-2-Methylglutaconic acid249.9MCCC1, MCCC2
43-methylglutaconyl-coa44 2410.8MCCC2, MCCC1
5flavin-adenine dinucleotide44 1110.8GCDH, IVD
6pcca449.7PCCB, PCCA
7S-Methylmalonyl-CoA249.7PCCB, PCCA
8Methylmalonyl-CoA249.7PCCB, PCCA
9Ceramide (d18:1/16:0)249.5IVD, MCCC1, MCCC2
10multivitamin449.3HLCS, BTD
11alpha lipoic acid449.2PC, BTD
12Propionyl-CoA249.2IVD, PCCB, PCCA, GCDH
13propionyl coa449.1PCCB, PC, PCCA
14carnitine448.9GCDH, PC, HLCS
15acyl-coa448.7GCDH, BTD, PC, HLCS
16fatty acid448.7BTD, PC, HLCS
17Phosphate248.3MCCC1, MCCC2, PCCB, PC, PCCA
18lysine448.1HLCS, PC, PCCA, BTD, GCDH
19acetyl-coa44 249.1HLCS, IVD, ACAT1, PC, HMGCL, GCDH
20adp44 28 2410.1MCCC1, MCCC2, PCCB, PC, PCCA
213-methylcrotonyl-coa44 248.8BTD, PC, MCCC2, MCCC1, IVD, HLCS
22Adenosine triphosphate24 118.4HLCS, MCCC1, MCCC2, PCCB, PC, PCCA
23biotin44 24 119.1HLCS, MCCC1, MCCC2, PCCB, PC, PCCA

GO Terms for genes affiliated with Organic Acidemia

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Cellular components related to Organic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.2MCCC1, ACAT1, PC, HMGCL, GCDH
2cytosolGO:0058296.9PCCA, PC, PCCB, MMACHC, MCCC2, MCCC1
3mitochondrionGO:0057396.3HLCS, MCCC1, MCCC2, MMACHC, ACAT1, PCCB
4mitochondrial matrixGO:0057596.3GCDH, IVD, MCCC1, MCCC2, ACAT1, PCCB

Biological processes related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:0469509.8HMGCL, ACAT1
2ketone body biosynthetic processGO:0469519.7ACAT1, HMGCL
3response to starvationGO:0425949.5HMGCL, ACAT1
4short-chain fatty acid catabolic processGO:0196269.5PCCA, PCCB
5fatty acid beta-oxidationGO:0066359.4PCCA, PCCB
6leucine catabolic processGO:0065529.2HMGCL, MCCC2, MCCC1, IVD
7branched-chain amino acid catabolic processGO:0090839.2IVD, MCCC1, MCCC2, ACAT1
8cellular lipid metabolic processGO:0442558.9ACAT1, PCCB, PCCA, HMGCL
9cellular nitrogen compound metabolic processGO:0346418.9GCDH, ACAT1, MCCC2, MCCC1, IVD
10biotin metabolic processGO:0067687.0HLCS, BTD, PCCA, PC, PCCB, MCCC2
11vitamin metabolic processGO:0067666.7HLCS, MCCC1, MCCC2, MMACHC, PCCB, PC
12water-soluble vitamin metabolic processGO:0067676.7BTD, PCCA, PC, PCCB, MMACHC, MCCC2
13small molecule metabolic processGO:0442815.5GCDH, HMGCL, BTD, PCCA, PC, PCCB

Molecular functions related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.9GCDH, IVD
2fatty-acyl-CoA bindingGO:0000629.8GCDH, HMGCL
3methylcrotonoyl-CoA carboxylase activityGO:0044859.8MCCC2, MCCC1
4propionyl-CoA carboxylase activityGO:0046589.5PCCA, PCCB
5biotin carboxylase activityGO:0040758.7MCCC1, PC, PCCA, BTD
6enzyme bindingGO:0198998.7HLCS, ACAT1, PCCA
7biotin bindingGO:0093748.3PCCA, PC, MCCC1, HLCS
8metal ion bindingGO:0468728.0HMGCL, PCCA, PC, ACAT1, MCCC1
9ATP bindingGO:0055247.2HLCS, MCCC1, MCCC2, PCCB, PC, PCCA

Products for genes affiliated with Organic Acidemia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Organic Acidemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet