MCID: ORG002
MIFTS: 41

Organic Acidemia malady

Genetic diseases, Rare diseases categories
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Summaries for Organic Acidemia

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Sources:
8Disease Ontology, 65Wikipedia, 33MalaCards
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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 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 Mitochondrial LC-Fatty Acid Beta-Oxidation and Fatty acid metabolism. 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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Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Aliases & Descriptions:

organic acidemia 8 43 20 10
organic acid metabolism disorder 8 22
organic aciduria 8 62
organic acidemias 62
aciduria organic 45


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

Symptoms for Organic Acidemia

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Drugs & Therapeutics for Organic Acidemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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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Sources:
52PubMed
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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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Sources:
2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 60Thomson Reuters, 55Reactome, 51PharmGKB
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Pathways related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)38
Fatty Acid Beta Oxidation38
9.9GCDH, ACAT1
2
Show member pathways
mitochondrial L-carnitine shuttle pathway38
Saturated fatty acid biosynthesis60
9.9GCDH, ACAT1
3
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.9ACAT1, GCDH
49.9ACAT1, GCDH
5
Show member pathways
9.9ACAT1, GCDH
69.8BTD, MMACHC
7
Show member pathways
9.8HMGCL, ACAT1
8
Show member pathways
Synthesis and Degradation of Ketone Bodies38
ketolysis38
9.8HMGCL, ACAT1
9
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.5ACAT1, PC
109.3IVD, MCCC1, MCCC2
119.3HLCS, BTD
129.1ACAT1, PCCB, PCCA
13
Show member pathways
8.8HMGCL, ACAT1, PCCB, PCCA
14
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.7GCDH, IVD, ACAT1, MCCC2, MCCC1
15
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
8.5ACAT1, PCCB, PCCA, PC
16
Show member pathways
beta-alanine degradation I38
valine degradation I38
pyruvate fermentation to lactate38
isoleucine degradation I38
7.6PCCB, PCCA, HMGCL, MCCC2, MCCC1, IVD
17
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
6.5BTD, PCCA, PC, PCCB, HLCS, MMACHC
186.5PCCA, PCCB, MMACHC, MCCC2, MCCC1, HLCS
19
Show member pathways
5.2BTD, MCCC2, HMGCL, MMACHC, ACAT1, PC

Compounds for genes affiliated with Organic Acidemia

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
13-hydroxyglutaric acid45 1111.1HMGCL, GCDH
2FADH249.9GCDH, IVD
3(E)-2-Methylglutaconic acid249.9MCCC1, MCCC2
43-methylglutaconyl-coa45 2410.8MCCC2, MCCC1
5flavin-adenine dinucleotide45 1110.8GCDH, IVD
6pcca459.7PCCB, PCCA
7S-Methylmalonyl-CoA249.7PCCB, PCCA
8Methylmalonyl-CoA249.7PCCB, PCCA
9Ceramide (d18:1/16:0)249.5IVD, MCCC1, MCCC2
10multivitamin459.3HLCS, BTD
11alpha lipoic acid459.2PC, BTD
12Propionyl-CoA249.2IVD, PCCB, PCCA, GCDH
13propionyl coa459.1PCCB, PC, PCCA
14carnitine458.9GCDH, PC, HLCS
15acyl-coa458.7GCDH, BTD, PC, HLCS
16fatty acid458.7BTD, PC, HLCS
17Phosphate248.3MCCC1, MCCC2, PCCB, PC, PCCA
18lysine458.1HLCS, PC, PCCA, BTD, GCDH
19acetyl-coa45 249.1HLCS, IVD, ACAT1, PC, HMGCL, GCDH
20adp45 29 2410.1MCCC1, MCCC2, PCCB, PC, PCCA
213-methylcrotonyl-coa45 248.8BTD, PC, MCCC2, MCCC1, IVD, HLCS
22Adenosine triphosphate24 118.4HLCS, MCCC1, MCCC2, PCCB, PC, PCCA
23biotin45 24 119.1HLCS, MCCC1, MCCC2, PCCB, PC, PCCA

GO Terms for genes affiliated with Organic Acidemia

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

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

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
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  • Lysates
  • Antibodies

Sources for Organic Acidemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet