MCID: ORG002
MIFTS: 39

Organic Acidemia malady

Metabolic diseases category

Summaries for Organic Acidemia

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Sources:
8Disease Ontology, 63Wikipedia, 32MalaCards
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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: Organic Acidemia, also known as organic acid metabolism disorder, is related to propionic acidemia and isovaleric acidemia. An important gene associated with Organic Acidemia is GCDH (glutaryl-CoA dehydrogenase), and among its related pathways are tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde and tryptophan utilization II. The compounds 3-hydroxyglutaric acid and (E)-2-Methylglutaconic acid have been mentioned in the context of this disorder.

Wikipedia:63 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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 60UMLS, 22GTR, 44Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

organic acidemia 8 42 20 10
organic acid metabolism disorder 8 22
organic aciduria 8 60
organic acidemias 60
aciduria organic 44


External Ids:

Disease Ontology8 DOID:0060159

Related Diseases for Organic Acidemia

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Organic Acidemia:



Diseases related to organic acidemia

Clinical Features for Organic Acidemia

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Drugs & Therapeutics for Organic Acidemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Organic Acidemia

Drug clinical trials:

Search ClinicalTrials for Organic Acidemia

Search NIH Clinical Center for Organic Acidemia

Search CenterWatch for Organic Acidemia

Genetic Tests for Organic Acidemia

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Sources:
20GeneTests, 22GTR
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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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50PubMed
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Articles related to Organic Acidemia:

(show all 25)
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
Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant. (11400752)
1999
10
A case study: organic acidemia. (7823796)
1994
11
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. (7726376)
1994
12
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. (7726385)
1994
13
The Organic Acidemias: An Overview (20301313)
1993
14
Diagnosis of organic acidemia in developing countries. (1790621)
1991
15
Succinic acidemia is not a new syndrome of organic acidemia. (2387080)
1990
16
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. (3383430)
1988
17
Quick screening and diagnosis of organic acidemia by NMR urinalysis. (3981318)
1985
18
Organic aciduria associated with isovaleric acidemia. (6839449)
1983
19
Transient hyperammonemias in infants with and without organic acidemia. (7164908)
1982
20
Changing plasma and urinary organic acid levels in a patient with isovaleric acidemia during an attack. (7133811)
1982
21
Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. (7054746)
1982
22
A study of the ultrastructure of the organs and of cultured fibroblasts incubated with isoleucine from a patient with propionic acidemia. (7333577)
1981
23
Failure of the normal ureagenic response to amino acids in organic acid-loaded rats. Proposed mechanism for the hyperammonemia of propionic and methylmalonic acidemia. (7400325)
1980
24
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. (7365583)
1980
25
Short-chain organic acidemia and Reye's syndrome. (1167641)
1975

Genetic Variations for Organic Acidemia

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Expression for genes affiliated with Organic Acidemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
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Pathways related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9ACAT1, GCDH
2
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9.9ACAT1, GCDH
39.9ACAT1, GCDH
49.6BTD, MMACHC
5
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9.5PCCA, PCCB
6
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9.5PCCA, PCCB
79.4ACAT1, PC
89.3BTD, HLCS
99.2ACAT1, PCCA, PCCB
10
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8.9PCCB, PCCA, HMGCL, ACAT1
118.8GCDH, IVD, MCCC2, MCCC1, ACAT1
12
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8.8MCCC2, MCCC1, MMACHC, HMGCL, ACAT1
13
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8.4ACAT1, PC, PCCA, PCCB
14
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7.7IVD, PCCB, PCCA, MCCC2, MCCC1, HMGCL
15
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6.9GCDH, HLCS, IVD, BTD, PCCB, PCCA
16
Saturated fatty acid biosynthesis
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6.7HLCS, BTD, PCCB, PCCA, PC, MCCC2
17
Hide members
6.5MMACHC, HLCS, MCCC1, MCCC2, PC, PCCA

Compounds for genes affiliated with Organic Acidemia

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
13-hydroxyglutaric acid44 1111.1GCDH, HMGCL
2(E)-2-Methylglutaconic acid249.9MCCC2, MCCC1
33-methylglutaconyl-coa44 2410.8MCCC2, MCCC1
4pcca449.7PCCB, PCCA
5flavin-adenine dinucleotide44 1110.6IVD, GCDH
6multivitamin449.4BTD, HLCS
7alpha lipoic acid449.0PC, BTD
8propionyl coa448.9PC, PCCA, PCCB
9carnitine448.9PC, HLCS, GCDH
10acyl-coa448.5GCDH, HLCS, BTD, PC
11acetyl-coa44 249.2GCDH, HLCS, IVD, PC, HMGCL, ACAT1
12lysine447.9PC, PCCA, BTD, HLCS, GCDH
13adp44 28 249.8PCCB, PCCA, PC, MCCC2, MCCC1
143-methylcrotonyl-coa44 248.7MCCC1, MCCC2, PC, BTD, IVD, HLCS
15Adenosine triphosphate11 248.5HLCS, PCCB, PCCA, PC, MCCC2, MCCC1
16biotin44 11 249.0HLCS, BTD, PCCB, PCCA, PC, MCCC2

GO Terms for genes affiliated with Organic Acidemia

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Sources:
16Gene Ontology
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Cellular components related to Organic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.0GCDH, PC, MCCC1, HMGCL, ACAT1
2cytosolGO:0058297.1MMACHC, MCCC1, MCCC2, PC, PCCA, PCCB
3mitochondrial matrixGO:0057596.7ACAT1, GCDH, IVD, PCCB, PCCA, PC
4mitochondrionGO:0057396.6GCDH, HLCS, PCCB, PC, MCCC2, MCCC1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:0469509.9HMGCL, ACAT1
2ketone body biosynthetic processGO:0469519.7ACAT1, HMGCL
3response to starvationGO:0425949.5ACAT1, HMGCL
4short-chain fatty acid catabolic processGO:0196269.5PCCB, PCCA
5fatty acid beta-oxidationGO:0066359.5PCCA, PCCB
6branched-chain amino acid catabolic processGO:0090839.2ACAT1, MCCC1, MCCC2, IVD
7leucine catabolic processGO:0065529.2IVD, MCCC2, MCCC1, HMGCL
8cellular lipid metabolic processGO:0442559.0ACAT1, HMGCL, PCCA, PCCB
9cellular nitrogen compound metabolic processGO:0346419.0GCDH, IVD, MCCC2, MCCC1, ACAT1
10biotin metabolic processGO:0067687.0MCCC1, MCCC2, PC, PCCA, PCCB, BTD
11vitamin metabolic processGO:0067666.7MMACHC, MCCC1, MCCC2, PC, PCCA, PCCB
12water-soluble vitamin metabolic processGO:0067676.7PCCB, BTD, HLCS, PCCA, PC, MMACHC
13small molecule metabolic processGO:0442815.5PCCB, BTD, IVD, HLCS, GCDH, PCCA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1methylcrotonoyl-CoA carboxylase activityGO:0044859.7MCCC2, MCCC1
2propionyl-CoA carboxylase activityGO:0046589.6PCCB, PCCA
3fatty-acyl-CoA bindingGO:0000629.6HMGCL, GCDH
4enzyme bindingGO:0198999.1ACAT1, PCCA, HLCS
5biotin bindingGO:0093748.3MCCC1, PC, PCCA, HLCS
6biotin carboxylase activityGO:0040758.2BTD, PCCA, PC, MCCC1
7ATP bindingGO:0055247.3HLCS, PCCB, PCCA, PC, MCCC2, MCCC1

Products for genes affiliated with Organic Acidemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet