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 52 15
Organic Aciduria 12 58 29
Disorder of Organic Acid Metabolism 29 71
Organic Acid Metabolism Disorder 12
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 isovaleric acidemia. 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 Metronidazole and Biotin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and skeletal muscle, and related phenotypes are liver/biliary system and mortality/aging

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 150)
# Related Disease Score Top Affiliating Genes
1 holocarboxylase synthetase deficiency 32.8 HLCS BTD
2 isovaleric acidemia 32.7 PCCB MMUT MMD MMAA BTD BCKDHB
3 3-methylglutaconic aciduria 32.5 TMEM70 SERAC1 OPA3 DNAJC19
4 maple syrup urine disease 32.3 PCCB MMUT MMD MMAA HMGCL BTD
5 barth syndrome 32.2 TMEM70 SERAC1 DNAJC19
6 3-methylglutaconic aciduria, type iv 32.1 TMEM70 SERAC1 OPA3
7 methylmalonic acidemia 31.8 PCCB PCCA MMUT MMD MMADHC MMACHC
8 propionic acidemia 31.5 PCCB PCCA MMUT MMD MMADHC MMAB
9 isolated methylmalonic acidemia 31.2 MMUT MMADHC MMAB MMAA
10 metabolic acidosis 31.0 HMGCL HLCS BTD
11 acyl-coa dehydrogenase deficiency 30.7 ACADS ACADM
12 alpha-methylacetoacetic aciduria 30.7 MMD HMGCL HLCS BTD
13 acyl-coa dehydrogenase, short-chain, deficiency of 30.6 MMD ACADS ACADM
14 homocystinuria 30.5 MMUT MMADHC MMACHC LMBRD1 BTD
15 biotin deficiency 30.5 PCCB PCCA HLCS BTD
16 citrullinemia, classic 30.4 SERAC1 MMD HLCS ACADS ACADM
17 multiple carboxylase deficiency 30.4 PCCB PCCA MMD HLCS BTD ACADS
18 intermediate maple syrup urine disease 30.4 BCKDHB BCKDHA
19 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.3 MMUT MMACHC
20 acyl-coa dehydrogenase, medium-chain, deficiency of 30.3 MMD BTD ACADS ACADM
21 3-methylcrotonyl-coa carboxylase deficiency 30.3 PCCB MMD MMAA HLCS BTD ACADS
22 urea cycle disorder 30.3 MMD HLCS ACADS ACADM
23 methylmalonic aciduria, cblb type 30.1 MMUT MMAB MMAA HMGCL HLCS
24 encephalopathy, ethylmalonic 30.1 TMEM70 ACADS
25 biotinidase deficiency 30.1 PCCB MMD HLCS BTD ACADS ACADM
26 reye syndrome 30.1 HMGCL ACADM
27 vitamin b12 deficiency 30.0 MMUT MMD MMADHC MMACHC LMBRD1
28 cerebral organic aciduria 12.5
29 classic organic aciduria 12.4
30 multiple acyl-coa dehydrogenase deficiency 11.5
31 glutaric acidemia i 11.3
32 d-glyceric aciduria 11.2
33 3-hydroxyisobutyric aciduria 11.2
34 combined malonic and methylmalonic aciduria 11.2
35 3-methylcrotonyl-coa carboxylase 1 deficiency 11.1
36 3-methylcrotonyl-coa carboxylase 2 deficiency 11.1
37 3-hydroxyisobutyryl-coa hydrolase deficiency 11.1
38 methylmalonyl-coa epimerase deficiency 11.1
39 hsd10 mitochondrial disease 11.1
40 methylmalonic acidemia with homocystinuria 10.5 MMADHC MMACHC
41 acyl-coa dehydrogenase, very long-chain, deficiency of 10.4 MMAA ACADS ACADM
42 carnitine deficiency, systemic primary 10.4 MMACHC ACADS ACADM
43 carnitine palmitoyltransferase i deficiency 10.4 ACADS ACADM
44 inherited metabolic disorder 10.4
45 transcobalamin ii deficiency 10.4 MMADHC MMAA LMBRD1
46 disorders of intracellular cobalamin metabolism 10.3 MMADHC MMACHC LMBRD1
47 methylmalonic aciduria, cbla type 10.3 MMUT MMADHC MMAB MMAA
48 sengers syndrome 10.2 TMEM70 SERAC1 DNAJC19
49 carnitine palmitoyltransferase ii deficiency, infantile 10.2 ACADS ACADM
50 carbonic anhydrase va deficiency, hyperammonemia due to 10.2

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 liver/biliary system MP:0005370 9.5 ACADM ACADS BCKDHA HMGCL MMUT OPA3
2 mortality/aging MP:0010768 9.4 ACADM ACADS BCKDHB HLCS HMGCL LMBRD1

Drugs & Therapeutics for Organic Acidemia

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

(show all 14)
# 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 Vitamin B7 Phase 3
5
carbamide peroxide Approved Phase 2 124-43-6
6
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
7
Methylcobalamin Approved, Investigational 13422-55-4
8
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
9
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
10
Cobalamin Experimental 13408-78-1 6857388
11 Vitamins
12 Vitamin B 12
13 Vitamin B Complex
14 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 Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach Recruiting NCT04176523 Carglumic Acid
6 The Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
7 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:

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

Publications for Organic Acidemia

Articles related to Organic Acidemia:

(show top 50) (show all 367)
# 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. 54 61
12633764 2003
4
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness. 54 61
11952077 2002
5
Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism. 54 61
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. 54 61
1635815 1992
8
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death. 54 61
2208722 1990
9
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. 61
32013889 2020
10
Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child. 61
31808324 2019
11
A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria. 61
31942424 2019
12
Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation. 61
31476111 2019
13
A study on a cohort of 301 Chinese patients with isolated methylmalonic acidemia. 61
31622506 2019
14
[Analysis of inborn error metabolism in 277 children with autism spectrum disorders from Hainan]. 61
31515778 2019
15
Noninvasive monitoring of chronic kidney disease using pH and perfusion imaging. 61
31453331 2019
16
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1. 61
31062211 2019
17
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center. 61
31523617 2019
18
Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely, and Quickly Reduce Plasma Ammonia and Leucine Levels in Children. 61
30987345 2019
19
Hydrocephalus in cblC type methylmalonic acidemia. 61
30564975 2019
20
The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias. 61
30870873 2019
21
3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations. 61
30847210 2019
22
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
23
Dyskinesia in a Child: A Concern for a Rare Neuro-Metabolic Disorder. 61
30630579 2019
24
Acylcarnitine profiling by low-resolution LC-MS. 61
31415665 2019
25
Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort. 61
31448154 2019
26
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. 61
30518688 2018
27
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. 61
30197275 2018
28
Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria. 61
30217188 2018
29
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. 61
29924026 2018
30
Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. 61
29314318 2018
31
Long-term liver disease in methylmalonic and propionic acidemias. 61
29433791 2018
32
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl. 61
29767664 2018
33
Difficulties in the dietary management of a girl with two diseases requiring a special diet. 61
30281517 2018
34
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department. 61
29988750 2018
35
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 61
28456887 2018
36
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms. 61
28699143 2018
37
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. 61
29068997 2017
38
Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. 61
28545977 2017
39
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. 61
28794906 2017
40
[Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ]. 61
28728265 2017
41
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 61
29039164 2017
42
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. 61
28302372 2017
43
Aminoguanidine alleviated MMA-induced impairment of cognitive ability in rats by downregulating oxidative stress and inflammatory reaction. 61
28223158 2017
44
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. 61
27784639 2017
45
Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling. 61
31032491 2017
46
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 61
27601257 2016
47
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 61
27397597 2016
48
Spectrum of Inherited Metabolic Disorders in Pakistani Children Presenting at a Tertiary Care Centre. 61
27353988 2016
49
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia. 61
26686503 2016
50
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program. 61
26566957 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 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
12.16 PCCB PCCA MMUT ACADS
5
Show member pathways
11.81 PCCB PCCA MMUT MMADHC MMACHC MMAA
6 11.7 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 11.27 PCCB PCCA MMUT BCKDHB BCKDHA ACADS
10 11.15 PCCB PCCA MMUT
11
Show member pathways
11.07 PCCA BCKDHB BCKDHA
12 11.01 MMACHC LMBRD1 BTD
13
Show member pathways
10.64 PCCB PCCA
14
Show member pathways
10.55 BCKDHB BCKDHA
15 10.42 MMUT MMADHC MMACHC MMAB MMAA LMBRD1
16
Show member pathways
10.13 MMUT MMAA
17 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 mitochondrial matrix GO:0005759 9.7 PCCB PCCA MMUT MMAB MMAA HMGCL
2 mitochondrion GO:0005739 9.53 TMEM70 SERAC1 PCCB PCCA OPA3 MMUT
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 BCKDHB BCKDHA ACADS ACADM
2 biotin metabolic process GO:0006768 9.46 PCCB PCCA HLCS BTD
3 cobalamin biosynthetic process GO:0009236 9.43 MMACHC MMAB MMAA
4 branched-chain amino acid catabolic process GO:0009083 9.37 BCKDHB BCKDHA
5 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADS ACADM
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:

# 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 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACADS ACADM
5 biotin binding GO:0009374 9.32 PCCA HLCS
6 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.26 BCKDHB BCKDHA
7 propionyl-CoA carboxylase activity GO:0004658 9.16 PCCB PCCA
8 alpha-ketoacid dehydrogenase activity GO:0003826 8.96 BCKDHB BCKDHA
9 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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