MCID: ORG002
MIFTS: 36

Organic Acidemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Aliases & Classifications for Organic Acidemia

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Organic Acidemia, Aliases & Descriptions:

Name: Organic Acidemia 9 41 20 11
Organic Acid Metabolism Disorder 9 22
Organic Aciduria 9 60
 
Disorder of Organic Acid Metabolism 60
Aciduria Organic 43


Classifications:



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Disease Ontology9 DOID:0060159

Summaries for Organic Acidemia

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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 based summary: Organic Acidemia, also known as organic acid metabolism disorder, is related to isovaleric acidemia and maple syrup urine disease, type ii. 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:63 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Organic Acidemia

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1isovaleric acidemia30.8HMGCL, IVD
2maple syrup urine disease, type ii30.2BTD, HMGCL
3homocystinuria30.2MMACHC, BTD, HMGCL
4holocarboxylase synthetase deficiency30.2BTD, HLCS
5biotinidase deficiency30.1HLCS, BTD
6multiple carboxylase deficiency30.0HLCS, PC, BTD
7methylmalonic acidemia30.0HMGCL, PC, HLCS
8lactic acidosis29.9BTD, PC
9propionicacidemia29.8HLCS, PCCB, PCCA, HMGCL
10hypoglycemia29.5HMGCL, BTD, PC, HLCS
11the organic acidemias: an10.4
12succinic acidemia10.2
13fatty acid oxidation disorders10.2
14alpha-methylacetoacetic aciduria10.2HMGCL, ACAT1
15acrodermatitis10.2
16glutathione synthetase deficiency10.1
172-methylbutyrylglycinuria10.1
18neonatal diabetes mellitus10.1
193-hydroxyisobutyric aciduria10.1
20aminoacidopathies10.1
213-methylcrotonyl-coa carboxylase deficiency10.1HMGCL, MCCC2, MCCC1
22reye syndrome10.0HMGCL, PC
23hyperammonemia multi-gene panels10.0HMGCL, PC
24mitochondrial pyruvate carrier deficiency10.0
25brown-vialetto-van laere syndrome 210.0
26mevalonic aciduria10.0
27cerebral creatine deficiency syndrome 310.0
28barth syndrome10.0
29acrodermatitis enteropathica10.0
30glutaric acidemia iic10.0
313-methylcrotonyl-coa carboxylase 2 deficiency10.0
3217-beta-hydroxysteroid dehydrogenase x deficiency10.0
33hepatitis10.0
34pearson syndrome10.0
35urea cycle disorder10.0
36cerebritis10.0
37diarrhea10.0
38hydrophthalmos10.0
39enteropathica10.0
40jamaican vomiting sickness10.0
41mental retardation10.0
42floppy infant syndrome10.0
43brain disease10.0GCDH, BTD, PC
44metabolic acidosis9.6HMGCL, BTD, PC, HLCS
45metabolic 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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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 Suite gene sharing:

(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)36
Fatty Acid Beta Oxidation36
9.9GCDH, ACAT1
3
Show member pathways
9.9GCDH, ACAT1
4
Show member pathways
mitochondrial L-carnitine shuttle pathway36
Saturated fatty acid biosynthesis58
9.9GCDH, ACAT1
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)36
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA36
tryptophan degradation36
glutaryl-CoA degradation36
serotonin degradation36
NAD de novo biosynthesis36
superpathway of melatonin degradation36
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde36
tryptophan utilization I36
melatonin degradation I36
9.9ACAT1, GCDH
69.8BTD, MMACHC
7
Show member pathways
Synthesis and Degradation of Ketone Bodies36
ketolysis36
9.8HMGCL, ACAT1
8
Show member pathways
9.8ACAT1, HMGCL
9
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
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 biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.7GCDH, ACAT1, MCCC2, MCCC1, IVD
15
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
8.5ACAT1, PCCB, PC, PCCA
16
Show member pathways
beta-alanine degradation I36
valine degradation I36
pyruvate fermentation to lactate36
isoleucine degradation I36
7.6IVD, MCCC1, MCCC2, ACAT1, PCCB, PCCA
176.5HLCS, MCCC1, MCCC2, MMACHC, PCCB, PC
18
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
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:
43Novoseek, 12DrugBank, 24HMDB, 28IUPHAR
See all sources

Compounds related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 23)
idCompoundScoreTop Affiliating Genes
13-hydroxyglutaric acid43 1211.1HMGCL, GCDH
2FADH249.9GCDH, IVD
3(E)-2-Methylglutaconic acid249.9MCCC1, MCCC2
43-methylglutaconyl-coa43 2410.8MCCC2, MCCC1
5flavin-adenine dinucleotide43 1210.8GCDH, IVD
6pcca439.7PCCB, PCCA
7S-Methylmalonyl-CoA249.7PCCB, PCCA
8Methylmalonyl-CoA249.7PCCB, PCCA
9Ceramide (d18:1/16:0)249.5IVD, MCCC1, MCCC2
10multivitamin439.3HLCS, BTD
11alpha lipoic acid439.2PC, BTD
12Propionyl-CoA249.2IVD, PCCB, PCCA, GCDH
13propionyl coa439.1PCCB, PC, PCCA
14carnitine438.9GCDH, PC, HLCS
15acyl-coa438.7GCDH, BTD, PC, HLCS
16fatty acid438.7BTD, PC, HLCS
17Phosphate248.3MCCC1, MCCC2, PCCB, PC, PCCA
18lysine438.1HLCS, PC, PCCA, BTD, GCDH
19acetyl-coa43 249.1HLCS, IVD, ACAT1, PC, HMGCL, GCDH
20adp43 28 2410.1MCCC1, MCCC2, PCCB, PC, PCCA
213-methylcrotonyl-coa43 248.8BTD, PC, MCCC2, MCCC1, IVD, HLCS
22Adenosine triphosphate24 128.4HLCS, MCCC1, MCCC2, PCCB, PC, PCCA
23biotin43 24 129.1HLCS, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057438.2MCCC1, ACAT1, PC, HMGCL, GCDH
2cytosolGO:00058296.9PCCA, PC, PCCB, MMACHC, MCCC2, MCCC1
3mitochondrionGO:00057396.3HLCS, MCCC1, MCCC2, MMACHC, ACAT1, PCCB
4mitochondrial matrixGO:00057596.3GCDH, IVD, MCCC1, MCCC2, ACAT1, PCCB

Biological processes related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:00469509.8HMGCL, ACAT1
2ketone body biosynthetic processGO:00469519.7ACAT1, HMGCL
3response to starvationGO:00425949.5HMGCL, ACAT1
4short-chain fatty acid catabolic processGO:00196269.5PCCA, PCCB
5fatty acid beta-oxidationGO:00066359.4PCCA, PCCB
6leucine catabolic processGO:00065529.2HMGCL, MCCC2, MCCC1, IVD
7branched-chain amino acid catabolic processGO:00090839.2IVD, MCCC1, MCCC2, ACAT1
8cellular lipid metabolic processGO:00442558.9ACAT1, PCCB, PCCA, HMGCL
9cellular nitrogen compound metabolic processGO:00346418.9GCDH, ACAT1, MCCC2, MCCC1, IVD
10biotin metabolic processGO:00067687.0HLCS, BTD, PCCA, PC, PCCB, MCCC2
11vitamin metabolic processGO:00067666.7HLCS, MCCC1, MCCC2, MMACHC, PCCB, PC
12water-soluble vitamin metabolic processGO:00067676.7BTD, PCCA, PC, PCCB, MMACHC, MCCC2
13small molecule metabolic processGO:00442815.5GCDH, HMGCL, BTD, PCCA, PC, PCCB

Molecular functions related to Organic Acidemia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.9GCDH, IVD
2fatty-acyl-CoA bindingGO:00000629.8GCDH, HMGCL
3methylcrotonoyl-CoA carboxylase activityGO:00044859.8MCCC2, MCCC1
4propionyl-CoA carboxylase activityGO:00046589.5PCCA, PCCB
5biotin carboxylase activityGO:00040758.7MCCC1, PC, PCCA, BTD
6enzyme bindingGO:00198998.7HLCS, ACAT1, PCCA
7biotin bindingGO:00093748.3PCCA, PC, MCCC1, HLCS
8metal ion bindingGO:00468728.0HMGCL, PCCA, PC, ACAT1, MCCC1
9ATP bindingGO:00055247.2HLCS, MCCC1, MCCC2, PCCB, PC, PCCA

Products for genes affiliated with Organic Acidemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Organic Acidemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet