MCID: ORG002
MIFTS: 43

Organic Acidemia

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Organic Acidemia

MalaCards integrated aliases for Organic Acidemia:

Name: Organic Acidemia 12 53 15
Organic Aciduria 12 59 29
Disorder of Organic Acid Metabolism 29 72
Organic Acid Metabolism Disorder 12
Aciduria Organic 55

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060159
Orphanet 59 ORPHA289899
UMLS 72 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 isovaleric acidemia and holocarboxylase synthetase deficiency. 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 Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and brain, and related phenotype is Increased vaccinia virus (VACV) infection.

Wikipedia : 75 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 140)
# Related Disease Score Top Affiliating Genes
1 isovaleric acidemia 33.1 HMGCL ACADS
2 holocarboxylase synthetase deficiency 32.7 HMGCL HLCS BTD
3 maple syrup urine disease 32.4 HMGCL BTD BCKDHB BCKDHA
4 propionic acidemia 32.0 PCCB PCCA MMAA HMGCL HLCS
5 3-methylglutaconic aciduria 31.0 TMEM70 SERAC1 OPA3
6 acyl-coa dehydrogenase, short-chain, deficiency of 30.6 ACADS ACADM
7 biotin deficiency 30.4 PCCB HLCS BTD
8 reye syndrome 30.4 HMGCL ACADM
9 multiple carboxylase deficiency 30.2 PCCB PCCA HLCS BTD
10 acyl-coa dehydrogenase, medium-chain, deficiency of 30.2 BTD ACADS ACADM
11 biotinidase deficiency 30.2 PCCB HLCS BTD
12 intermediate maple syrup urine disease 30.1 BCKDHB BCKDHA
13 methylmalonic aciduria, cblb type 29.9 MMAB MMAA
14 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 28.3 MMADHC MMACHC MMAB MMAA HMGCL HLCS
15 cerebral organic aciduria 12.5
16 classic organic aciduria 12.3
17 methylmalonic acidemia 11.7
18 multiple acyl-coa dehydrogenase deficiency 11.5
19 barth syndrome 11.3
20 d-glyceric aciduria 11.2
21 glutaric acidemia i 11.2
22 3-hydroxyisobutyric aciduria 11.2
23 combined malonic and methylmalonic aciduria 11.2
24 3-methylcrotonyl-coa carboxylase 1 deficiency 11.1
25 3-methylcrotonyl-coa carboxylase 2 deficiency 11.1
26 3-hydroxyisobutyryl-coa hydrolase deficiency 11.1
27 methylmalonyl-coa epimerase deficiency 11.1
28 hsd10 mitochondrial disease 11.1
29 isolated methylmalonic acidemia 10.5
30 inherited metabolic disorder 10.4
31 metabolic acidosis 10.3
32 acyl-coa dehydrogenase, very long-chain, deficiency of 10.2 HMGCL ACADS
33 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
34 hypoglycemia 10.2
35 argininosuccinic aciduria 10.2
36 methylmalonic acidemia with homocystinuria 10.1 MMADHC MMACHC
37 ocular motor apraxia 10.1
38 homocystinuria 10.1
39 disorders of intracellular cobalamin metabolism 10.1 MMADHC MMACHC
40 alpha-methylacetoacetic aciduria 10.1
41 3-methylcrotonyl-coa carboxylase deficiency 10.1
42 lactic acidosis 10.1
43 aminoacidopathies 10.1
44 encephalopathy 10.1
45 acyl-coa dehydrogenase deficiency 10.1
46 citrullinemia, classic 10.0
47 phenylketonuria 10.0
48 succinic acidemia 10.0
49 alacrima, achalasia, and mental retardation syndrome 10.0
50 pancreatitis 10.0

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 9.53 ACADM ACADS BCKDHA BCKDHB BTD HLCS

Drugs & Therapeutics for Organic Acidemia

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
3 carnitine Phase 3
4 Anti-Bacterial Agents Phase 3
5 Antiparasitic Agents Phase 3
6 Antiprotozoal Agents Phase 3
7 Vitamin B7 Phase 3
8 Anti-Infective Agents Phase 3
9
carbamide peroxide Approved Phase 2 124-43-6
10
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
11
Methylcobalamin Approved, Experimental, Investigational 13422-55-4
12
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
13
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
14
Cobalamin Experimental 13408-78-1 6857388
15 Vitamins
16 Vitamin B 12
17 Vitamin B Complex
18 Vitamin B12

Interventional clinical trials:


# 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 Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol Completed NCT02322177
4 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Recruiting NCT03484767
5 The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
6 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078

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:

41
Liver, Skeletal Muscle, Brain, Heart, Bone, Bone Marrow, Cerebellum

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show top 50) (show all 358)
# Title Authors PMID Year
1
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. 9 38
17173698 2006
2
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. 9 38
15308132 2004
3
A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. 9 38
12633764 2003
4
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. 9 38
11952077 2002
5
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. 9 38
9350481 1997
6
Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients. 9 38
8541348 1995
7
Short-chain acyl-coenzyme A dehydrogenase activity, antigen, and biosynthesis are absent in the BALB/cByJ mouse. 9 38
1635815 1992
8
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death. 9 38
2208722 1990
9
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1. 38
31062211 2019
10
Hydrocephalus in cblC type methylmalonic acidemia. 38
30564975 2019
11
Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children. 38
30987345 2019
12
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias. 38
30870873 2019
13
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations. 38
30847210 2019
14
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing. 38
30657467 2019
15
Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder. 38
30630579 2019
16
Acylcarnitine profiling by low-resolution LC-MS. 38
31415665 2019
17
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. 38
30518688 2018
18
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. 38
30197275 2018
19
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 38
30217188 2018
20
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. 38
29924026 2018
21
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. 38
29314318 2018
22
Long-term liver disease in methylmalonic and propionic acidemias. 38
29433791 2018
23
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. 38
29767664 2018
24
Difficulties in the dietary management of a girl with two diseases requiring a special diet. 38
30281517 2018
25
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department. 38
29988750 2018
26
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 38
28456887 2018
27
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms. 38
28699143 2018
28
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. 38
29068997 2017
29
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. 38
28545977 2017
30
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. 38
28794906 2017
31
[Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ]. 38
28728265 2017
32
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 38
29039164 2017
33
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 38
28302372 2017
34
Aminoguanidine alleviated MMA-induced impairment of cognitive ability in rats by downregulating oxidative stress and inflammatory reaction. 38
28223158 2017
35
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. 38
27784639 2017
36
Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling. 38
31032491 2017
37
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 38
27601257 2016
38
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 38
27397597 2016
39
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. 38
26686503 2016
40
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre. 38
27353988 2016
41
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. 38
26566957 2016
42
A Rare Cause of Sudden Onset- Severe Metabolic Acidosis in Paediatric Surgical Patients- Organic Acidemia. 38
27134976 2016
43
A Case of Organic Acidemia: Are Physicians Aware Enough? 38
29201734 2016
44
Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions. 38
26936850 2016
45
Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients). 38
27375759 2016
46
Demographic and Clinical Findings in Pediatric Patients Affected by Organic Acidemia. 38
27247587 2016
47
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. 38
26028457 2016
48
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 38
27306203 2016
49
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum. 38
26898293 2016
50
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. 38
26725562 2015

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
13.86 PCCB PCCA MMADHC MMACHC MMAB MMAA
2
Show member pathways
12.71 PCCB PCCA MMAA HMGCL ACADS ACADM
3
Show member pathways
12.36 PCCB PCCA MMADHC MMACHC MMAB MMAA
4
Show member pathways
12.14 PCCB PCCA ACADS ACADM
5
Show member pathways
11.73 PCCB PCCA MMADHC MMACHC MMAA
6
Show member pathways
11.47 PCCB PCCA MMAA ACADS ACADM
7
Show member pathways
11.24 PCCB PCCA HMGCL BCKDHB BCKDHA ACADS
8
Show member pathways
11.18 BCKDHB BCKDHA
9
Show member pathways
11.14 HMGCL ACADS
10 11.02 PCCB PCCA
11
Show member pathways
11.02 PCCA BCKDHB BCKDHA
12 10.94 MMADHC MMACHC MMAB MMAA
13 10.92 MMACHC BTD
14 10.89 PCCB PCCA BCKDHB BCKDHA ACADM
15
Show member pathways
10.6 PCCB PCCA
16
Show member pathways
10.49 BCKDHB BCKDHA
17 9.95 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 mitochondrial matrix GO:0005759 9.65 PCCB PCCA MMAB MMAA HMGCL BTD
2 mitochondrion GO:0005739 9.47 TMEM70 SERAC1 PCCB PCCA OPA3 MMADHC
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 9.77 MMACHC BCKDHB BCKDHA ACADS ACADM
2 lipid metabolic process GO:0006629 9.73 SERAC1 HMGCL ACADS ACADM
3 response to starvation GO:0042594 9.4 HMGCL ACADM
4 cobalamin biosynthetic process GO:0009236 9.33 MMACHC MMAB MMAA
5 branched-chain amino acid catabolic process GO:0009083 9.32 BCKDHB BCKDHA
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.26 ACADS ACADM
7 cobalamin metabolic process GO:0009235 9.26 MMADHC MMACHC MMAB MMAA
8 biotin metabolic process GO:0006768 8.92 PCCB PCCA HLCS BTD

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 MMACHC BCKDHB BCKDHA ACADS ACADM
2 ligase activity GO:0016874 9.61 PCCB PCCA HLCS
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADS ACADM
4 cobalamin binding GO:0031419 9.37 MMACHC MMAB
5 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADS ACADM
6 biotin binding GO:0009374 9.26 PCCA HLCS
7 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.16 BCKDHB BCKDHA
8 propionyl-CoA carboxylase activity GO:0004658 8.96 PCCB PCCA
9 alpha-ketoacid dehydrogenase activity GO:0003826 8.62 BCKDHB BCKDHA

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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