MCID: ORG002
MIFTS: 40

Organic Acidemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Organic Acidemia

MalaCards integrated aliases for Organic Acidemia:

Name: Organic Acidemia 12 54 15
Disorder of Organic Acid Metabolism 30 74
Organic Aciduria 12 30
Organic Acid Metabolism Disorder 12
Aciduria Organic 56

Classifications:



External Ids:

Disease Ontology 12 DOID:0060159
UMLS 74 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 holocarboxylase synthetase deficiency and isovaleric acidemia. An important gene associated with Organic Acidemia is HMGCL (3-Hydroxy-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. Affiliated tissues include liver and pancreas, and related phenotype is Increased vaccinia virus (VACV) infection.

Wikipedia : 77 Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino... more...

Related Diseases for Organic Acidemia

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.3 BTD HLCS HMGCL
2 isovaleric acidemia 32.3 ACADS HMGCL
3 maple syrup urine disease 32.0 BCKDHB BTD HMGCL
4 propionic acidemia 31.9 HLCS HMGCL MMAA PCCA PCCB
5 3-methylglutaconic aciduria 30.8 OPA3 SERAC1 TMEM70
6 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.7 HLCS HMGCL MMAA MMAB MMACHC MMADHC
7 reye syndrome 30.2 ACADM HMGCL
8 biotin deficiency 30.2 BTD HLCS PCCB
9 multiple carboxylase deficiency 29.7 BTD HLCS PCCA PCCB
10 methylmalonic acidemia 11.5
11 barth syndrome 11.2
12 d-glyceric aciduria 11.0
13 multiple acyl-coa dehydrogenase deficiency 11.0
14 3-hydroxyisobutyric aciduria 11.0
15 3-methylcrotonyl-coa carboxylase 1 deficiency 11.0
16 3-methylcrotonyl-coa carboxylase 2 deficiency 11.0
17 methylmalonyl-coa epimerase deficiency 11.0
18 hsd10 mitochondrial disease 11.0
19 acyl-coa dehydrogenase, short-chain, deficiency of 10.2 ACADM ACADS
20 acyl-coa dehydrogenase, medium-chain, deficiency of 10.2 ACADM ACADS BTD
21 biotinidase deficiency 10.1 BTD HLCS PCCB
22 acyl-coa dehydrogenase, very long-chain, deficiency of 10.1 ACADS HMGCL
23 methylmalonic acidemia with homocystinuria 10.1 MMACHC MMADHC
24 homocystinuria 10.0
25 disorders of intracellular cobalamin metabolism 10.0 MMACHC MMADHC
26 methylmalonic aciduria, cblb type 10.0 MMAA MMAB
27 succinic acidemia 10.0
28 aminoacidopathies 10.0
29 acrodermatitis 10.0
30 diabetes mellitus 9.9
31 metabolic acidosis 9.9
32 neonatal diabetes mellitus 9.9
33 lactic acidosis 9.9
34 inherited metabolic disorder 9.9
35 hypoglycemia 9.9
36 encephalopathy 9.9
37 acrodermatitis enteropathica, zinc-deficiency type 9.8
38 pearson marrow-pancreas syndrome 9.8
39 fumarase deficiency 9.8
40 renal tubular acidosis 9.8
41 vitamin b12 deficiency 9.8
42 methemoglobinemia 9.8
43 hydrophthalmos 9.8
44 diarrhea 9.8
45 gastroenteritis 9.8
46 movement disease 9.8
47 pancreatitis 9.8
48 enteropathica 9.8
49 jamaican vomiting sickness 9.8
50 floppy infant syndrome 9.8

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.5 ACADM ACADS BCKDHB BTD HLCS HMGCL

Drugs & Therapeutics for Organic Acidemia

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Methylcobalamin Approved, Experimental, Investigational 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
Cobalamin Experimental Phase 3 13408-78-1 6857388
7 Vitamin B Complex Phase 3
8 Vitamin B 12 Phase 3
9 Vitamins Phase 3
10 Vitamin B12 Phase 3
11 Vitamin B7 Phase 3
12 carnitine Phase 3
13
carbamide peroxide Approved Phase 2 124-43-6
14
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
15 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Completed 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 Energy Metabolism in Branched-chain Organic Acidemias Completed NCT03917212
4 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177
5 Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
6 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767
7 Clinical and Laboratory Study of Methylmalonic Acidemia Recruiting NCT00078078
8 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 30
2 Organic Aciduria 30

Anatomical Context for Organic Acidemia

MalaCards organs/tissues related to Organic Acidemia:

42
Liver, Pancreas

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show all 18)
# Title Authors Year
1
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. ( 27134976 )
2016
2
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. ( 27247587 )
2016
3
A Case of Organic Acidemia: Are Physicians Aware Enough? ( 29201734 )
2016
4
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. ( 26725562 )
2015
5
Neonatal diabetes mellitus due to a novel ABCC8 gene mutation mimicking an organic acidemia. ( 23783767 )
2014
6
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. ( 21970506 )
2012
7
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. ( 10785335 )
2000
8
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. ( 10598689 )
1999
9
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. ( 11400763 )
1999
10
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. ( 7726376 )
1994
11
A case study: organic acidemia. ( 7823796 )
1994
12
Diagnosis of organic acidemia in developing countries. ( 1790621 )
1991
13
Succinic acidemia is not a new syndrome of organic acidemia. ( 2387080 )
1990
14
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. ( 3383430 )
1988
15
Quick screening and diagnosis of organic acidemia by NMR urinalysis. ( 3981318 )
1985
16
Transient hyperammonemias in infants with and without organic acidemia. ( 7164908 )
1982
17
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. ( 7365583 )
1980
18
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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ACADM ACADS BCKDHB BTD HLCS HMGCL
2
Show member pathways
12.68 ACADM ACADS HMGCL MMAA PCCA PCCB
3
Show member pathways
12.1 ACADM ACADS PCCA PCCB
4
Show member pathways
11.83 BTD HLCS MMAA MMAB MMACHC MMADHC
5
Show member pathways
11.69 MMAA MMACHC MMADHC PCCA PCCB
6
Show member pathways
11.51 ACADM ACADS BCKDHB HMGCL PCCA PCCB
7
Show member pathways
11.37 ACADM ACADS MMAA PCCA PCCB
8
Show member pathways
11.27 ACADM ACADS
9 11.17 ACADM BCKDHB PCCA PCCB
10
Show member pathways
11.12 ACADS HMGCL
11 11 PCCA PCCB
12
Show member pathways
10.99 BCKDHB PCCA
13 10.88 MMAA MMAB MMACHC MMADHC
14 10.87 BTD MMACHC
15 9.93 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 9.61 ACADM ACADS BCKDHB BTD HMGCL MMAA
2 mitochondrion GO:0005739 9.44 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 9.62 ACADM ACADS HMGCL SERAC1
2 fatty acid beta-oxidation GO:0006635 9.4 ACADM ACADS
3 response to starvation GO:0042594 9.37 ACADM HMGCL
4 cobalamin biosynthetic process GO:0009236 9.33 MMAA MMAB MMACHC
5 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADM ACADS
6 cobalamin metabolic process GO:0009235 9.26 MMAA MMAB MMACHC MMADHC
7 biotin metabolic process GO:0006768 8.92 BTD HLCS PCCA PCCB

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.71 ACADM ACADS BCKDHB MMACHC
2 ligase activity GO:0016874 9.5 HLCS PCCA PCCB
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 ACADM ACADS
4 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADM ACADS
5 cobalamin binding GO:0031419 9.16 MMAB MMACHC
6 biotin binding GO:0009374 8.96 HLCS PCCA
7 propionyl-CoA carboxylase activity GO:0004658 8.62 PCCA PCCB

Sources for Organic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....