MCID: ACY011
MIFTS: 31

Acyl-Coa Dehydrogenase Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Acyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Acyl-Coa Dehydrogenase Deficiency:

Name: Acyl-Coa Dehydrogenase Deficiency 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E71.3
UMLS via Orphanet 71 C0268635
Orphanet 58 ORPHA309120

Summaries for Acyl-Coa Dehydrogenase Deficiency

MalaCards based summary : Acyl-Coa Dehydrogenase Deficiency is related to long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and acyl-coa dehydrogenase, very long-chain, deficiency of. An important gene associated with Acyl-Coa Dehydrogenase Deficiency is ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain), and among its related pathways/superpathways are Metabolism and Valine, leucine and isoleucine degradation. The drugs Glycerol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and kidney.

Related Diseases for Acyl-Coa Dehydrogenase Deficiency

Diseases related to Acyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 32.2 ACADVL ACADM
2 acyl-coa dehydrogenase, very long-chain, deficiency of 32.1 ETFDH ETFA ACADVL ACADM
3 acyl-coa dehydrogenase, medium-chain, deficiency of 32.0 ETFDH ETFA ACADVL ACADM
4 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 31.9 ETFDH ETFA
5 multiple acyl-coa dehydrogenase deficiency, mild type 31.9 ETFDH ETFA
6 multiple acyl-coa dehydrogenase deficiency 31.8 ETFDH ETFA ACADVL ACADM
7 acyl-coa dehydrogenase, short-chain, deficiency of 31.4 ETFDH ETFA ACADVL ACADSB ACADM
8 hypoglycemia 30.8 ACADVL ACADM
9 reye syndrome 30.7 ETFDH ACADM
10 isovaleric acidemia 30.6 ACADVL ACADSB
11 abdominal obesity-metabolic syndrome 1 30.3 ETFDH ACADM
12 fazio-londe disease 30.0 ETFDH ETFA
13 propionic acidemia 30.0 ACADVL ACADSB
14 riboflavin deficiency 29.9 ETFDH ETFA
15 mitochondrial trifunctional protein deficiency 29.7 ETFDH ACADVL ACADM
16 methylmalonic acidemia 29.5 ETFDH ACADM
17 2-methylbutyryl-coa dehydrogenase deficiency 12.0
18 medium-chain acyl-coenzyme a dehydrogenase deficiency 11.8
19 transient neonatal multiple acyl-coa dehydrogenase deficiency 11.4
20 myopathy 11.0
21 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.9
22 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.9
23 autosomal recessive disease 10.8
24 muscular lipidosis 10.8
25 inherited metabolic disorder 10.8
26 hypotonia 10.8
27 ocular motor apraxia 10.7
28 sudden infant death syndrome 10.7
29 metabolic acidosis 10.7
30 non-alcoholic fatty liver disease 10.6
31 atrial standstill 1 10.6
32 carbonic anhydrase va deficiency, hyperammonemia due to 10.6
33 myoglobinuria 10.6
34 organic acidemia 10.5
35 hypertrophic cardiomyopathy 10.5
36 fatty liver disease 10.5
37 encephalopathy 10.5
38 fatty liver disease, nonalcoholic 1 10.4
39 polymyositis 10.4
40 respiratory failure 10.4
41 hemopericardium 10.4
42 pericardial effusion 10.4
43 hepatic coma 10.4
44 hellp syndrome 10.4
45 polyneuropathy 10.4
46 liver disease 10.4
47 neuropathy 10.4
48 phenylketonuria 10.4
49 leukodystrophy 10.4
50 hepatic encephalopathy 10.4

Graphical network of the top 20 diseases related to Acyl-Coa Dehydrogenase Deficiency:



Diseases related to Acyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Acyl-Coa Dehydrogenase Deficiency

Drugs & Therapeutics for Acyl-Coa Dehydrogenase Deficiency

Drugs for Acyl-Coa Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational 56-81-5 753
2
Heparin Approved, Investigational 9005-49-6 772 9812414
3 Fibrinolytic Agents
4 Anticoagulants
5 Pharmaceutical Solutions
6 insulin
7 Soy Bean
8 Protective Agents
9 Soybean oil, phospholipid emulsion
10 Fat Emulsions, Intravenous
11 Parenteral Nutrition Solutions
12 calcium heparin
13 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
2 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Completed NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fasting Tolerance in Patients With Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the First Six Months of Life: an Investigator-initiated Human Pilot-study Recruiting NCT03761693

Search NIH Clinical Center for Acyl-Coa Dehydrogenase Deficiency

Genetic Tests for Acyl-Coa Dehydrogenase Deficiency

Anatomical Context for Acyl-Coa Dehydrogenase Deficiency

MalaCards organs/tissues related to Acyl-Coa Dehydrogenase Deficiency:

40
Liver, Heart, Kidney, Cortex, Skeletal Muscle, Small Intestine, Brain

Publications for Acyl-Coa Dehydrogenase Deficiency

Articles related to Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 823)
# Title Authors PMID Year
1
Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening. 61
33732619 2021
2
Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency. 61
33549404 2021
3
Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease. 61
33450351 2021
4
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency. 61
33438237 2021
5
Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'. 61
33720849 2021
6
Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge. 61
33762273 2021
7
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
32798077 2021
8
Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics. 61
33570056 2021
9
Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency. 61
33543789 2021
10
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM. 61
33383363 2021
11
Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency. 61
33639866 2021
12
Neonatal Screening for Congenital Metabolic and Endocrine Disorders—Results From Germany for the Years 2006–2018 61
33439822 2021
13
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible? 61
33580884 2021
14
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication. 61
33473335 2021
15
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report. 61
33633951 2021
16
Clinical Therapeutic Management of Human Mitochondrial Disorders. 61
33053453 2020
17
Multiple acyl-CoA dehydrogenase deficiency (MADD) presenting as polymyositis. 61
32617583 2020
18
Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy. 61
32608139 2020
19
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.] 61
33372917 2020
20
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients. 61
33304817 2020
21
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin. 61
32064983 2020
22
Late-onset multiple acyl-CoA dehydrogenase deficiency mimicking myositis in an elderly patient: a case report. 61
33267805 2020
23
Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency. 61
33204637 2020
24
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population 61
32212602 2020
25
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT. 61
33351248 2020
26
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). 61
32558070 2020
27
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency. 61
33150772 2020
28
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations. 61
32669490 2020
29
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene. 61
33131365 2020
30
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. 61
33204595 2020
31
Clinical characteristics and gene mutation analysis of an adult patient with ETFDH‑related multiple acyl‑CoA dehydrogenase deficiency. 61
33000234 2020
32
Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. 61
32804429 2020
33
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role? 61
32045933 2020
34
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach. 61
33093005 2020
35
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review. 61
32925727 2020
36
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study. 61
32463482 2020
37
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency]. 61
32820518 2020
38
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes. 61
32216101 2020
39
Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency. 61
31971349 2020
40
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis. 61
30801335 2020
41
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study. 61
32601637 2020
42
Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy. 61
32722651 2020
43
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency. 61
33239584 2020
44
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
31955429 2020
45
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. 61
32802992 2020
46
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency. 61
32087359 2020
47
Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. 61
31136308 2020
48
Multiple Acyl-CoA Dehydrogenase Deficiency 61
32550677 2020
49
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia. 61
32518924 2020
50
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots. 61
32061778 2020

Variations for Acyl-Coa Dehydrogenase Deficiency

Expression for Acyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for Acyl-Coa Dehydrogenase Deficiency.

Pathways for Acyl-Coa Dehydrogenase Deficiency

Pathways related to Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 ETFDH ETFA ACADVL ACADSB ACADM
2
Show member pathways
11.44 ACADSB ACADM
3
Show member pathways
11.25 ACADVL ACADSB ACADM
4
Show member pathways
11.08 ACADVL ACADM
5
Show member pathways
10.88 ACADVL ACADM
6 10.6 ACADVL ACADM

GO Terms for Acyl-Coa Dehydrogenase Deficiency

Cellular components related to Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 ETFDH ETFA ACADVL ACADSB ACADM
2 mitochondrial membrane GO:0031966 9.33 ETFDH ACADVL ACADM
3 mitochondrial matrix GO:0005759 9.02 ETFDH ETFA ACADVL ACADSB ACADM

Biological processes related to Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.61 ACADVL ACADSB ACADM
2 electron transport chain GO:0022900 9.4 ETFDH ETFA
3 fatty acid beta-oxidation GO:0006635 9.37 ACADVL ACADM
4 oxidation-reduction process GO:0055114 9.35 ETFDH ETFA ACADVL ACADSB ACADM
5 fatty acid metabolic process GO:0006631 9.33 ACADVL ACADSB ACADM
6 response to cold GO:0009409 9.32 ACADVL ACADM
7 respiratory electron transport chain GO:0022904 9.26 ETFDH ETFA
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 8.92 ETFDH ETFA ACADVL ACADM

Molecular functions related to Acyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 ETFDH ETFA ACADVL ACADSB ACADM
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADVL ACADSB ACADM
3 electron transfer activity GO:0009055 9.32 ETFDH ETFA
4 acyl-CoA dehydrogenase activity GO:0003995 9.13 ACADVL ACADSB ACADM
5 flavin adenine dinucleotide binding GO:0050660 9.02 ETFDH ETFA ACADVL ACADSB ACADM

Sources for Acyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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