MCID: ORG002
MIFTS: 44

Organic Acidemia

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Organic Acidemia

MalaCards integrated aliases for Organic Acidemia:

Name: Organic Acidemia 12 15
Organic Aciduria 12 58 29
Disorder of Organic Acid Metabolism 29 71
Organic Acid Metabolism Disorder 12
Inherited Organic Acidemia 52
Organic Acidemias 52
Organic Acidurias 52
Aciduria Organic 54

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060159
Orphanet 58 ORPHA289899
UMLS 71 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 organic aciduria, is related to holocarboxylase synthetase deficiency and multiple acyl-coa dehydrogenase deficiency. An important gene associated with Organic Acidemia is BTD (Biotinidase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 74 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 152)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.9 HLCS BTD
2 multiple acyl-coa dehydrogenase deficiency 32.9 GCDH ACADS ACADM
3 isovaleric acidemia 32.8 PCCB MMUT MMD MMAA BTD BCKDHB
4 3-methylglutaconic aciduria 32.7 SERAC1 OPA3 DNAJC19
5 glutaric acidemia i 32.5 MMD MMADHC MMAA GCDH
6 barth syndrome 32.4 SERAC1 OPA3 DNAJC19
7 maple syrup urine disease 32.3 PCCB MMUT MMD MMAA HMGCL BTD
8 3-methylglutaconic aciduria, type iv 32.3 SERAC1 OPA3
9 combined malonic and methylmalonic aciduria 32.3 MMD MMADHC MMAB MMAA
10 methylmalonic acidemia 31.9 PCCB PCCA MMUT MMD MMADHC MMACHC
11 3-methylglutaconic aciduria, type iii 31.8 SERAC1 OPA3 MMAA DNAJC19 BTD ACADS
12 propionic acidemia 31.6 PCCB PCCA MMUT MMD MMADHC MMACHC
13 isolated methylmalonic acidemia 31.2 MMUT MMADHC MMAB MMAA
14 metabolic acidosis 31.0 HMGCL HLCS BTD
15 acyl-coa dehydrogenase deficiency 30.9 ACADS ACADM
16 alpha-methylacetoacetic aciduria 30.8 MMD MMACHC HMGCL
17 acyl-coa dehydrogenase, short-chain, deficiency of 30.7 ACADS ACADM
18 citrullinemia, classic 30.7 MMD BCKDHB ACADM
19 biotin deficiency 30.5 PCCB PCCA HLCS BTD
20 phenylketonuria 30.5 BTD BCKDHA ACADM
21 intermediate maple syrup urine disease 30.5 BCKDHB BCKDHA
22 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.4 MMUT MMACHC
23 multiple carboxylase deficiency 30.4 PCCB PCCA MMD HLCS BTD ACADS
24 acyl-coa dehydrogenase, medium-chain, deficiency of 30.4 MMD BTD ACADS ACADM
25 urea cycle disorder 30.4 SERAC1 MMD HLCS
26 biotinidase deficiency 30.3 PCCB MMD HLCS BTD ACADS
27 3-methylcrotonyl-coa carboxylase deficiency 30.2 PCCB MMD MMAA HLCS GCDH BTD
28 reye syndrome 30.1 HMGCL ACADM
29 homocystinuria 30.1 MMUT MMD MMADHC MMACHC MMAA LMBRD1
30 vitamin b12 deficiency 30.1 MMUT MMD MMADHC MMACHC LMBRD1
31 ornithine transcarbamylase deficiency, hyperammonemia due to 30.0 MMD BCKDHB
32 methylmalonic aciduria, cblb type 30.0 MMUT MMACHC MMAB MMAA HMGCL HLCS
33 dystonia 29.8 SERAC1 MMUT MMADHC MMAA GCDH BTD
34 cerebral organic aciduria 12.5
35 classic organic aciduria 12.4
36 d-glyceric aciduria 11.2
37 3-hydroxyisobutyric aciduria 11.2
38 3-methylcrotonyl-coa carboxylase 1 deficiency 11.1
39 3-methylcrotonyl-coa carboxylase 2 deficiency 11.1
40 3-hydroxyisobutyryl-coa hydrolase deficiency 11.1
41 methylmalonyl-coa epimerase deficiency 11.1
42 hsd10 mitochondrial disease 11.1
43 intracranial arteriosclerosis 10.5 MMD MMACHC
44 methylmalonic acidemia with homocystinuria 10.5 MMADHC MMACHC
45 acyl-coa dehydrogenase, very long-chain, deficiency of 10.5 GCDH ACADS ACADM
46 carnitine palmitoyltransferase i deficiency 10.4 ACADS ACADM
47 branched-chain keto acid dehydrogenase kinase deficiency 10.4 BCKDHB BCKDHA
48 abdominal obesity-metabolic syndrome 1 10.4 PCCA BTD ACADM
49 disorders of intracellular cobalamin metabolism 10.4 MMADHC MMACHC LMBRD1
50 transcobalamin ii deficiency 10.4 MMADHC MMAA LMBRD1

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



Diseases related to Organic Acidemia

Symptoms & Phenotypes for Organic Acidemia

MGI Mouse Phenotypes related to Organic Acidemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ACADS BCKDHA BTD GCDH HMGCL MMAA
2 growth/size/body region MP:0005378 9.9 BCKDHA BTD DNAJC19 GCDH HLCS HMGCL
3 liver/biliary system MP:0005370 9.5 ACADM ACADS BCKDHA HMGCL MMUT OPA3
4 mortality/aging MP:0010768 9.4 ACADM ACADS BCKDHA BCKDHB HLCS HMGCL

Drugs & Therapeutics for Organic Acidemia

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
3
Metronidazole Approved Phase 3 443-48-1 4173
4
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
5
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
6
Cobalamin Experimental Phase 3 13408-78-1 6857388
7 Vitamins Phase 3
8 Vitamin B Complex Phase 3
9 Vitamin B 12 Phase 3
10 Vitamin B12 Phase 3
11 carnitine Phase 3
12 Vitamin B7 Phase 3
13
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
14
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
15
Sodium citrate Approved, Investigational Phase 1 68-04-2
16
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
17 Citrate Phase 1
18 Chelating Agents Phase 1
19 glutamine Phase 1
20 Anticoagulants Phase 1
21 Calcium, Dietary Phase 1
22
Calcium Nutraceutical Phase 1 7440-70-2 271
23
carbamide peroxide Approved 124-43-6
24 Liver Extracts

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
2 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
3 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
4 A Global, Phase 1/2, Open-label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3927 in Participants With Propionic Acidemia Not yet recruiting NCT04159103 Phase 1, Phase 2
5 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
6 Non-invasive Measurement of Energy Metabolism in Patients With Primary and Secondary Mitochondrial Diseases Completed NCT03917212
7 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177
8 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Recruiting NCT03484767
9 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
10 The NIH Mini Study: Metabolism, INfection and Immunity in Inborn Errors of Mitochondrial Metabolism Recruiting NCT01780168
11 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
12 The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342

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

MalaCards organs/tissues related to Organic Acidemia:

40
Liver, Skeletal Muscle, Brain, Heart, Kidney, Bone Marrow, Bone

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show top 50) (show all 371)
# Title Authors PMID Year
1
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 54 61
17173698 2006
2
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 54 61
15308132 2004
3
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. 61 54
12633764 2003
4
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. 61 54
11952077 2002
5
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. 61 54
9350481 1997
6
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. 54 61
8541348 1995
7
Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. 61 54
1635815 1992
8
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death. 54 61
2208722 1990
9
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis. 61
32198913 2020
10
Cardiac phenotype in propionic acidemia - Results of an observational monocentric study. 61
32067920 2020
11
Clinical and genetic analysis of five Chinese patients with urea cycle disorders. 61
32410394 2020
12
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
13
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61
31622506 2020
14
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. 61
32013889 2020
15
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child. 61
31808324 2019
16
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
17
Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. 61
31476111 2019
18
[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. 61
31515778 2019
19
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1. 61
31062211 2019
20
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. 61
31453331 2019
21
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. 61
31523617 2019
22
Hydrocephalus in cblC type methylmalonic acidemia. 61
30564975 2019
23
Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children. 61
30987345 2019
24
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias. 61
30870873 2019
25
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations. 61
30847210 2019
26
Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder. 61
30630579 2019
27
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. 61
30657467 2019
28
Acylcarnitine profiling by low-resolution LC-MS. 61
31415665 2019
29
Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. 61
31448154 2019
30
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. 61
30518688 2018
31
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. 61
30197275 2018
32
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
33
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. 61
29314318 2018
34
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. 61
29924026 2018
35
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. 61
29767664 2018
36
Long-term liver disease in methylmalonic and propionic acidemias. 61
29433791 2018
37
Difficulties in the dietary management of a girl with two diseases requiring a special diet. 61
30281517 2018
38
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department. 61
29988750 2018
39
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 61
28456887 2018
40
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms. 61
28699143 2018
41
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. 61
29068997 2017
42
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. 61
28545977 2017
43
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. 61
28794906 2017
44
[Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ]. 61
28728265 2017
45
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 61
29039164 2017
46
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 61
28302372 2017
47
Aminoguanidine alleviated MMA-induced impairment of cognitive ability in rats by downregulating oxidative stress and inflammatory reaction. 61
28223158 2017
48
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. 61
27784639 2017
49
Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling. 61
31032491 2017
50
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 61
27601257 2016

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 PCCB PCCA MMUT MMADHC MMACHC MMAB
2
Show member pathways
12.75 PCCB PCCA MMUT MMAA HMGCL ACADS
3
Show member pathways
12.46 PCCB PCCA MMUT MMADHC MMACHC MMAB
4
Show member pathways
12.17 PCCB PCCA MMUT ACADS
5
Show member pathways
11.81 PCCB PCCA MMUT MMADHC MMACHC MMAA
6 11.71 MMUT HMGCL ACADM
7
Show member pathways
11.63 PCCB PCCA MMUT HMGCL BCKDHB BCKDHA
8
Show member pathways
11.62 PCCB PCCA MMUT MMAA ACADS ACADM
9
Show member pathways
11.44 GCDH ACADS ACADM
10 11.27 PCCB PCCA MMUT BCKDHB BCKDHA ACADS
11 11.15 PCCB PCCA MMUT
12
Show member pathways
11.05 PCCA BCKDHB BCKDHA
13 11.01 MMACHC LMBRD1 BTD
14
Show member pathways
10.65 PCCB PCCA
15
Show member pathways
10.56 BCKDHB BCKDHA
16 10.42 MMUT MMADHC MMACHC MMAB MMAA LMBRD1
17
Show member pathways
10.13 MMUT MMAA
18 9.99 HLCS BTD

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 mitochondrion GO:0005739 9.86 SERAC1 PCCB PCCA OPA3 MMUT MMADHC
2 mitochondrial matrix GO:0005759 9.4 PCCB PCCA MMUT MMAB MMAA HMGCL
3 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 9.16 BCKDHB BCKDHA

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 MMACHC GCDH BCKDHB BCKDHA ACADS ACADM
2 lipid metabolic process GO:0006629 9.77 SERAC1 PCCA HMGCL ACADS ACADM
3 biotin metabolic process GO:0006768 9.46 PCCB PCCA HLCS BTD
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.43 GCDH ACADS ACADM
5 branched-chain amino acid catabolic process GO:0009083 9.4 BCKDHB BCKDHA
6 short-chain fatty acid catabolic process GO:0019626 9.26 PCCB PCCA MMUT MMAA
7 cobalamin metabolic process GO:0009235 9.1 MMUT MMADHC MMACHC MMAB MMAA LMBRD1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 MMACHC GCDH BCKDHB BCKDHA ACADS ACADM
2 ligase activity GO:0016874 9.67 PCCB PCCA HLCS
3 flavin adenine dinucleotide binding GO:0050660 9.63 GCDH ACADS ACADM
4 fatty-acyl-CoA binding GO:0000062 9.48 HMGCL GCDH
5 biotin binding GO:0009374 9.43 PCCA HLCS
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 GCDH ACADS ACADM
7 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.37 BCKDHB BCKDHA
8 alpha-ketoacid dehydrogenase activity GO:0003826 9.32 BCKDHB BCKDHA
9 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCB PCCA
10 acyl-CoA dehydrogenase activity GO:0003995 9.13 GCDH ACADS ACADM
11 cobalamin binding GO:0031419 8.92 MMUT MMACHC MMAB LMBRD1

Sources for Organic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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