MCID: ORG002
MIFTS: 38

Organic Acidemia

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Organic Acidemia

MalaCards integrated aliases for Organic Acidemia:

Name: Organic Acidemia 12 50 14
Disorder of Organic Acid Metabolism 29 69
Organic Acidemias 24 69
Organic Aciduria 12 29
Organic Acid Metabolism Disorder 12
Aciduria Organic 52

Classifications:



External Ids:

Disease Ontology 12 DOID:0060159

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 maple syrup urine disease, type ii and methylmalonic acidemia. 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 Metronidazole and Hydroxocobalamin have been mentioned in the context of this disorder.

Wikipedia : 72 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 41)
id Related Disease Score Top Affiliating Genes
1 maple syrup urine disease, type ii 31.4 BCKDHB BTD HMGCL
2 methylmalonic acidemia 11.2
3 holocarboxylase synthetase deficiency 11.1
4 isovaleric acidemia 11.0
5 propionicacidemia 10.9
6 methylmalonic aciduria, mut(0) type 10.8
7 d-glycericacidemia 10.7
8 glutathione synthetase deficiency 10.7
9 3-hydroxyisobutyric aciduria 10.7
10 3-methylglutaconic aciduria 10.7
11 deafness, autosomal dominant 25 10.6 ACADM ACADS
12 dyskeratosis congenita, autosomal recessive 1 10.5 ACADS HMGCL
13 fgb-related congenital afibrinogenemia 10.5 ACADM ACADS
14 malignant cardiac peripheral nerve sheath neoplasm 10.4 ACADM HMGCL
15 adenylosuccinase lyase deficiency 10.4 BTD HLCS HMGCL
16 acyl-coa dehydrogenase, medium chain, deficiency of 10.4 ACADM ACADS BTD
17 atrioventricular block 10.4 BTD HLCS PCCB
18 cystinosis, ocular nonnephropathic 10.4 ACADS HMGCL
19 muscular dystrophy, limb-girdle, type ic 10.4 BTD HLCS PCCB
20 kat6b-related disorders 10.3 MMAB MUT
21 long qt syndrome 6 10.3 BTD HLCS
22 perinephritis 10.1 BTD HLCS
23 soft palate cancer 10.0 BTD HLCS PCCA PCCB
24 serine deficiency 10.0 MMADHC MUT
25 microvascular complications of diabetes 6 10.0 SERAC1 TMEM70
26 cerebrooculonasal syndrome 9.9 SERAC1 TMEM70
27 3-m syndrome 3 9.9 SERAC1 TMEM70
28 fatty acid oxidation disorders 9.9
29 charcot-marie-tooth disease, dominant intermediate f 9.7 SERAC1 TMEM70
30 neonatal diabetes mellitus 9.6
31 lactic acidosis 9.6
32 hypoglycemia 9.6
33 aminoacidopathies 9.6
34 hyperammonemia 9.6
35 metabolic acidosis 9.6
36 agammaglobulinemia 2 9.6 MMAA MMADHC MUT
37 l-2-hydroxyglutaric aciduria 9.6
38 hailey-hailey disease 9.4 HLCS HMGCL MMAA MUT PCCA PCCB
39 homocystinuria 9.0 BCKDHB MMAA MMACHC MUT PCCA PCCB
40 calcaneonavicular coalition 8.2 HMGCL MMAA MMAB MMACHC MMADHC MUT
41 body dysmorphic disorder 5.2 ACADM ACADS BCKDHB BTD HLCS HMGCL

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



Diseases related to Organic Acidemia

Symptoms & Phenotypes for Organic Acidemia

Drugs & Therapeutics for Organic Acidemia

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

(show all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 5460373 44475014
3
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
4
Biotin Approved, Nutraceutical Phase 3 58-85-5 171548
5
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
6 tannic acid Approved, Nutraceutical Phase 3
7 Vitamin B 12 Phase 3
8 Vitamin B Complex Phase 3
9 Vitamins Phase 3
10 Ophthalmic Solutions Phase 3
11 Pharmaceutical Solutions Phase 3
12 Plasma-lyte 148 Phase 3
13 carnitine Nutraceutical Phase 3
14 Vitamin B12 Nutraceutical Phase 3
15
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
16
Methylcobalamin Experimental, Nutraceutical Phase 3 13422-55-4
17 Vitamin B7 Nutraceutical Phase 3
18
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262 389
19
Glutamic Acid Approved, Nutraceutical Phase 1 56-86-0 33032
20 Chelating Agents Phase 1
21 Anticoagulants Phase 1
22 Calcium, Dietary Phase 1
23 Dialysis Solutions Phase 1
24 glutamine Nutraceutical Phase 1
25 Citrate Nutraceutical Phase 1
26
Citric Acid Nutraceutical, Vet_approved Phase 1 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
2 Comparative Analysis Between Ringer's Lactate vs Plasma Lyte-A as Cardiopulmonary Bypass Prime Not yet recruiting NCT03043131 Phase 3 Plasmalyte A;Ringer Lactate
3 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
4 Anaplerotic Therapy in Propionic Acidemia Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
5 Comparison of Standard Versus Low Bicarbonate Hemodialysis Completed NCT01777178 Phase 1
6 Comparison of High Versus Low Bicarbonate Hemodialysis Active, not recruiting NCT02098356 Phase 1

Search NIH Clinical Center for Organic Acidemia

Genetic Tests for Organic Acidemia

Genetic tests related to Organic Acidemia:

id Genetic test Affiliating Genes
1 Disorder of Organic Acid Metabolism 29
2 Organic Aciduria 29
3 Organic Acidemias 24

Anatomical Context for Organic Acidemia

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show all 24)
id Title Authors Year
1
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
2
The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening. ( 27928776 )
2017
3
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. ( 27134976 )
2016
4
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. ( 27247587 )
2016
5
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. ( 26725562 )
2015
6
Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia. ( 23783767 )
2013
7
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience. ( 23994778 )
2013
8
Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults. ( 23524598 )
2013
9
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. ( 21970506 )
2012
10
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. ( 17301002 )
2007
11
Simplified screening for organic acidemia using GC/MS and dried urine filter paper: a study on neonatal mass screening. ( 10785335 )
2000
12
Automated metabolic profiling and interpretation of GC/MS data for organic acidemia screening: a personal computer-based system. ( 10598689 )
1999
13
Automated, simplified GC/MS data processing system for organic acidemia screening and its application. ( 11400763 )
1999
14
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism. ( 7726385 )
1994
15
Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. ( 7726376 )
1994
16
A case study: organic acidemia. ( 7823796 )
1994
17
The Organic Acidemias: An Overview ( 20301313 )
1993
18
Diagnosis of organic acidemia in developing countries. ( 1790621 )
1991
19
Succinic acidemia is not a new syndrome of organic acidemia. ( 2387080 )
1990
20
Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. ( 3383430 )
1988
21
Quick screening and diagnosis of organic acidemia by NMR urinalysis. ( 3981318 )
1985
22
Transient hyperammonemias in infants with and without organic acidemia. ( 7164908 )
1982
23
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. ( 7365583 )
1980
24
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 16)
id 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
12.17 ACADM ACADS MUT PCCA PCCB
5
Show member pathways
11.83 MMAA MMACHC MMADHC MUT PCCA PCCB
6 11.65 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
11.14 ACADS HMGCL
11 11.1 MUT PCCA PCCB
12
Show member pathways
10.96 BCKDHB PCCA
13 10.92 BTD MMACHC
14 10.9 MMAA MMAB MMACHC MMADHC MUT
15
Show member pathways
10.6 PCCA PCCB
16 9.97 BTD HLCS

GO Terms for Organic Acidemia

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

id 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:

id 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 short-chain fatty acid catabolic process GO:0019626 9.26 MMAA MUT PCCA PCCB
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.07 ACADM
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:

id Name GO ID Score Top Affiliating Genes
1 ligase activity GO:0016874 9.54 HLCS PCCA PCCB
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 ACADM ACADS
3 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADM ACADS
4 cobalamin binding GO:0031419 9.16 MMACHC MUT
5 biotin binding GO:0009374 8.96 HLCS PCCA
6 propionyl-CoA carboxylase activity GO:0004658 8.62 PCCA PCCB

Sources for Organic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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