MCID: ORG002
MIFTS: 38

Organic Acidemia

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Organic Acidemia

MalaCards integrated aliases for Organic Acidemia:

Name: Organic Acidemia 12 53 15
Disorder of Organic Acid Metabolism 29 73
Organic Aciduria 12 29
Organic Acid Metabolism Disorder 12
Aciduria Organic 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0060159
UMLS 73 C1263739

Summaries for Organic Acidemia

Disease Ontology : 12 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 disorder of organic acid metabolism, is related to isovaleric acidemia and holocarboxylase synthetase deficiency. An important gene associated with Organic Acidemia is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Hydroxocobalamin and Metronidazole have been mentioned in the context of this disorder. Related phenotype is Increased vaccinia virus (VACV) infection.

Wikipedia : 76 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Related Diseases for Organic Acidemia

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 isovaleric acidemia 32.4 ACADS HMGCL
2 holocarboxylase synthetase deficiency 32.0 BTD HLCS HMGCL MUT
3 maple syrup urine disease 31.9 BCKDHB BTD HMGCL
4 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 31.9 MMAA MUT
5 propionic acidemia 30.6 HLCS HMGCL MMAA MUT PCCA PCCB
6 methylmalonic aciduria, cblb type 29.2 HLCS HMGCL MMAA MMAB MMACHC MMADHC
7 d-glyceric aciduria 10.9
8 glutaric acidemia i 10.9
9 multiple acyl-coa dehydrogenase deficiency 10.9
10 3-hydroxyisobutyric aciduria 10.9
11 3-methylglutaconic aciduria 10.9
12 3-methylcrotonyl-coa carboxylase deficiency 10.6 HMGCL MUT
13 acyl-coa dehydrogenase, short-chain, deficiency of 10.5 ACADM ACADS
14 reye syndrome 10.4 ACADM HMGCL
15 acyl-coa dehydrogenase, medium-chain, deficiency of 10.4 ACADM ACADS BTD
16 biotin deficiency 10.4 BTD HLCS PCCB
17 biotinidase deficiency 10.4 BTD HLCS PCCB
18 acyl-coa dehydrogenase, very long-chain, deficiency of 10.3 ACADS HMGCL
19 isolated methylmalonic acidemia 10.3 MMAB MUT
20 carbohydrate metabolic disorder 10.2 BTD HLCS
21 methylmalonic acidemia with homocystinuria 10.1 MMACHC MMADHC
22 multiple carboxylase deficiency 10.1 ACADM BTD HLCS PCCB
23 vitamin metabolic disorder 10.1 MMADHC MUT
24 disorders of intracellular cobalamin metabolism 10.0 MMACHC MMADHC
25 succinic acidemia 9.9
26 aminoacidopathies 9.9
27 diabetes mellitus 9.7
28 metabolic acidosis 9.7
29 neonatal diabetes mellitus 9.7
30 lactic acidosis 9.7
31 hypoglycemia 9.7
32 transcobalamin ii deficiency 9.7 MMAA MMADHC MUT
33 l-2-hydroxyglutaric aciduria 9.7
34 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.6 SERAC1 TMEM70
35 3-methylglutaconic aciduria, type iv 9.5 SERAC1 TMEM70
36 3-methylglutaconic aciduria, type iii 9.4 BTD SERAC1 TMEM70
37 3-methylglutaconic aciduria, type v 9.0 SERAC1 TMEM70
38 amino acid metabolic disorder 8.5 BCKDHB BTD MMAA MMACHC MUT PCCA

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



Diseases related to Organic Acidemia

Symptoms & Phenotypes for Organic Acidemia

GenomeRNAi Phenotypes related to Organic Acidemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.5 MMAA MMAB MMACHC MMADHC MUT PCCA

Drugs & Therapeutics for Organic Acidemia

Drugs for Organic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 44475014
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3 13422-55-4
4
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
5
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
6 Vitamin B 12 Phase 3
7 Vitamin B Complex Phase 3
8 Vitamins Phase 3
9 Vitamin B12 Nutraceutical Phase 3
10 carnitine Nutraceutical Phase 3
11
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
12 Vitamin B7 Nutraceutical Phase 3
13
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767
4 The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism Recruiting NCT01780168

Search NIH Clinical Center for Organic Acidemia

Genetic Tests for Organic Acidemia

Genetic tests related to Organic Acidemia:

# Genetic test Affiliating Genes
1 Disorder of Organic Acid Metabolism 29
2 Organic Aciduria 29

Anatomical Context for Organic Acidemia

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show all 27)
# Title Authors Year
1
Neuroimaging Findings of Organic Acidemias and Aminoacidopathies. ( 29757724 )
2018
2
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
3
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. ( 27928776 )
2017
4
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. ( 27247587 )
2016
5
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. ( 27134976 )
2016
6
A Case of Organic Acidemia: Are Physicians Aware Enough? ( 29201734 )
2016
7
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. ( 26725562 )
2015
8
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. ( 23994778 )
2013
9
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. ( 23524598 )
2013
10
Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia. ( 23783767 )
2013
11
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. ( 21970506 )
2012
12
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. ( 17301002 )
2007
13
Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of alpha-ketoacids. ( 11482739 )
2001
14
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. ( 10785335 )
2000
15
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. ( 10598689 )
1999
16
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. ( 11400763 )
1999
17
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. ( 7726385 )
1994
18
A case study: organic acidemia. ( 7823796 )
1994
19
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. ( 7726376 )
1994
20
The Organic Acidemias: An Overview ( 20301313 )
1993
21
Diagnosis of organic acidemia in developing countries. ( 1790621 )
1991
22
Succinic acidemia is not a new syndrome of organic acidemia. ( 2387080 )
1990
23
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. ( 3383430 )
1988
24
Quick screening and diagnosis of organic acidemia by NMR urinalysis. ( 3981318 )
1985
25
Transient hyperammonemias in infants with and without organic acidemia. ( 7164908 )
1982
26
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. ( 7365583 )
1980
27
Short-chain organic acidemia and Reye's syndrome. ( 1167641 )
1975

Variations for Organic Acidemia

Expression for Organic Acidemia

Search GEO for disease gene expression data for Organic Acidemia.

Pathways for Organic Acidemia

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 ACADM ACADS BCKDHB BTD HLCS HMGCL
2
Show member pathways
12.75 ACADM ACADS HMGCL MMAA MUT PCCA
3
Show member pathways
12.22 BTD HLCS MMAA MMAB MMACHC MMADHC
4
Show member pathways
12.18 ACADM ACADS MUT PCCA PCCB
5
Show member pathways
11.81 MMAA MMACHC MMADHC MUT PCCA PCCB
6 11.66 ACADM HMGCL MUT
7
Show member pathways
11.55 ACADM ACADS MMAA MUT PCCA PCCB
8
Show member pathways
11.24 ACADM ACADS BCKDHB HMGCL MUT PCCA
9 11.22 ACADM BCKDHB MUT PCCA PCCB
10
Show member pathways
11.15 ACADS HMGCL
11 11.1 MUT PCCA PCCB
12
Show member pathways
11.03 BCKDHB PCCA
13 10.93 BTD MMACHC
14 10.88 MMAA MMAB MMACHC MMADHC MUT
15
Show member pathways
10.62 PCCA PCCB
16
Show member pathways
10.11 MMAA MUT
17 9.97 BTD HLCS

GO Terms for Organic Acidemia

Cellular components related to Organic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.65 ACADM ACADS BCKDHB BTD HMGCL MMAA
2 mitochondrion GO:0005739 9.47 ACADM ACADS BCKDHB HLCS HMGCL MMAA

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.73 ACADM ACADS HMGCL SERAC1
2 metabolic process GO:0008152 9.72 ACADM ACADS BCKDHB HLCS MUT
3 biotin metabolic process GO:0006768 9.46 BTD HLCS PCCA PCCB
4 cobalamin biosynthetic process GO:0009236 9.43 MMAA MMAB MMACHC
5 response to starvation GO:0042594 9.4 ACADM HMGCL
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.37 ACADM ACADS
7 short-chain fatty acid catabolic process GO:0019626 9.26 MMAA MUT PCCA PCCB
8 cobalamin metabolic process GO:0009235 9.02 MMAA MMAB MMACHC MMADHC MUT

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.77 HLCS HMGCL MMAA MMACHC MUT
2 oxidoreductase activity GO:0016491 9.73 ACADM ACADS BCKDHB MMACHC
3 ligase activity GO:0016874 9.5 HLCS PCCA PCCB
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACADM ACADS
5 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADM ACADS
6 biotin binding GO:0009374 9.16 HLCS PCCA
7 propionyl-CoA carboxylase activity GO:0004658 8.96 PCCA PCCB
8 cobalamin binding GO:0031419 8.8 MMAB MMACHC MUT

Sources for Organic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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