MCID: ORG002
MIFTS: 41

Organic Acidemia malady

Genetic diseases, Rare diseases categories

Summaries for Organic Acidemia

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Sources:
9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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:66 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:
9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

organic acidemia 9 44 21 11
organic acid metabolism disorder 9 23
organic aciduria 9 63
organic acidemias 63
aciduria organic 46


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Disease Ontology9 DOID:0060159

Related Diseases for Organic Acidemia

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
21GeneTests, 23GTR
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Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Organic Acidemias21
2 Disorder of Organic Acid Metabolism23

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:
53PubMed
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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, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 61Thomson Reuters, 56Reactome, 52PharmGKB
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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)39
Fatty Acid Beta Oxidation39
9.9GCDH, ACAT1
2
Show member pathways
mitochondrial L-carnitine shuttle pathway39
Saturated fatty acid biosynthesis61
9.9GCDH, ACAT1
3
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)39
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA39
tryptophan degradation39
glutaryl-CoA degradation39
serotonin degradation39
NAD de novo biosynthesis39
superpathway of melatonin degradation39
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde39
tryptophan utilization I39
melatonin degradation I39
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 Bodies39
ketolysis39
9.8HMGCL, ACAT1
9
Show member pathways
methylglyoxal degradation VI39
methylglyoxal degradation I39
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 biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.7GCDH, IVD, ACAT1, MCCC2, MCCC1
15
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
8.5ACAT1, PCCB, PCCA, PC
16
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
7.6PCCB, PCCA, HMGCL, MCCC2, MCCC1, IVD
17
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
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:
46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR
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Compounds related to Organic Acidemia according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
13-hydroxyglutaric acid46 1211.1HMGCL, GCDH
2FADH259.9GCDH, IVD
3(E)-2-Methylglutaconic acid259.9MCCC1, MCCC2
43-methylglutaconyl-coa46 2510.8MCCC2, MCCC1
5flavin-adenine dinucleotide46 1210.8GCDH, IVD
6pcca469.7PCCB, PCCA
7S-Methylmalonyl-CoA259.7PCCB, PCCA
8Methylmalonyl-CoA259.7PCCB, PCCA
9Ceramide (d18:1/16:0)259.5IVD, MCCC1, MCCC2
10multivitamin469.3HLCS, BTD
11alpha lipoic acid469.2PC, BTD
12Propionyl-CoA259.2IVD, PCCB, PCCA, GCDH
13propionyl coa469.1PCCB, PC, PCCA
14carnitine468.9GCDH, PC, HLCS
15acyl-coa468.7GCDH, BTD, PC, HLCS
16fatty acid468.7BTD, PC, HLCS
17Phosphate258.3MCCC1, MCCC2, PCCB, PC, PCCA
18lysine468.1HLCS, PC, PCCA, BTD, GCDH
19acetyl-coa46 259.1HLCS, IVD, ACAT1, PC, HMGCL, GCDH
20adp46 30 2510.1MCCC1, MCCC2, PCCB, PC, PCCA
213-methylcrotonyl-coa46 258.8BTD, PC, MCCC2, MCCC1, IVD, HLCS
22Adenosine triphosphate25 128.4HLCS, MCCC1, MCCC2, PCCB, PC, PCCA
23biotin46 25 129.1HLCS, MCCC1, MCCC2, PCCB, PC, PCCA

GO Terms for genes affiliated with Organic Acidemia

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Sources:
17Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Organic Acidemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet