MCID: ACY011
MIFTS: 38

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 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0268635
Orphanet 59 ORPHA309120

Summaries for Acyl-Coa Dehydrogenase Deficiency

MalaCards based summary : Acyl-Coa Dehydrogenase Deficiency is related to multiple acyl-coa dehydrogenase deficiency, severe neonatal type 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Glycerol and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and liver, and related phenotypes are homeostasis/metabolism and liver/biliary system

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 133)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.5 ETFDH ETFB ETFA
2 acyl-coa dehydrogenase, very long-chain, deficiency of 34.5 HADHA ACADVL ACADS ACADL
3 multiple acyl-coa dehydrogenase deficiency, mild type 34.5 ETFDH ETFB ETFA
4 multiple acyl-coa dehydrogenase deficiency 34.2 SLC22A5 ETFDH ETFB ETFA ACADVL ACADS
5 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 33.9 HADHA ACADVL ACADM
6 acyl-coa dehydrogenase, medium-chain, deficiency of 33.5 HADHA ACADVL ACADS ACADM ACADL ACAD8
7 acyl-coa dehydrogenase, short-chain, deficiency of 33.4 ACADSB ACADS ACADM ACADL ACAD8
8 hypoglycemia 32.0 ACADVL ACADM ACADL
9 atrial standstill 1 31.4 SLC22A5 HADHA ACADVL
10 isovaleric acidemia 30.9 ACADSB ACADS ACAD8
11 carbonic anhydrase va deficiency, hyperammonemia due to 30.8 OTC ASS1
12 riboflavin deficiency 30.6 ETFDH ETFA ACADS
13 phenylketonuria 30.5 OTC HADHA ACADM
14 reye syndrome 29.8 PC OTC HADHA ASS1 ACADM
15 2-methylbutyryl-coa dehydrogenase deficiency 12.7
16 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.6
17 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.6
18 myopathy 11.0
19 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.9
20 autosomal recessive disease 10.8
21 inherited metabolic disorder 10.8
22 hypotonia 10.8
23 muscular lipidosis 10.8
24 ocular motor apraxia 10.8
25 sudden infant death syndrome 10.7
26 abdominal obesity-metabolic syndrome 1 10.6
27 metabolic acidosis 10.6
28 myoglobinuria 10.6
29 encephalopathy 10.6
30 fatty liver disease, nonalcoholic 1 10.6
31 organic acidemia 10.6
32 fatty liver disease 10.6
33 pearson marrow-pancreas syndrome 10.6 DLG4 ACADVL
34 hypertrophic cardiomyopathy 10.5
35 hemopericardium 10.5
36 pericardial effusion 10.5
37 hepatic coma 10.5
38 hellp syndrome 10.5
39 polyneuropathy 10.5
40 neuropathy 10.5
41 hepatic encephalopathy 10.4
42 isobutyryl-coa dehydrogenase deficiency 10.4 ETFDH ACAD8
43 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
44 scoliosis 10.3
45 cardiac arrest 10.3
46 leukodystrophy 10.3
47 respiratory failure 10.3
48 dilated cardiomyopathy 10.3
49 sensory peripheral neuropathy 10.3
50 liver disease 10.3

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

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ACAD8 ACADL ACADM ACADS ACADVL ASS1
2 liver/biliary system MP:0005370 9.61 ACAD8 ACADL ACADM ACADS ACADVL CHKA
3 mortality/aging MP:0010768 9.47 ACADL ACADM ACADS ACADVL ASS1 CHKA

Drugs & Therapeutics for Acyl-Coa Dehydrogenase Deficiency

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

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1 56-81-5 753
2 Protective Agents Phase 1
3 4-phenylbutyric acid Phase 1
4
Heparin Approved, Investigational 9005-49-6 46507594 772
5
Calcium Approved, Nutraceutical 7440-70-2 271
6 Pharmaceutical Solutions
7 Fat Emulsions, Intravenous
8 insulin
9 Parenteral Nutrition Solutions
10 Fibrinolytic Agents
11 Insulin, Globin Zinc
12 Soy Bean
13 Soybean oil, phospholipid emulsion
14 Anticoagulants
15 calcium heparin
16 Calcium, Dietary
17 Hypoglycemic Agents

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 Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients With MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
3 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
4 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:

41
Testes, Brain, Liver, Skin, Cortex, Kidney, Skeletal Muscle

Publications for Acyl-Coa Dehydrogenase Deficiency

Articles related to Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 742)
# Title Authors PMID Year
1
Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 38
31312603 2019
2
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose. 38
30990523 2019
3
Anesthetic management for a patient with medium-chain acyl-CoA dehydrogenase deficiency in an outpatient setting using ketamine and fentanyl. 38
30684927 2019
4
The fate of medium-chain fatty acids in very long-chain acyl‑CoA dehydrogenase deficiency (VLCADD): A matter of sex? 38
31394165 2019
5
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. 38
30982706 2019
6
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. 38
31392824 2019
7
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. 38
31268564 2019
8
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 38
31058673 2019
9
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. 38
30904546 2019
10
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype. 38
31215835 2019
11
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 38
31241292 2019
12
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. 38
31331668 2019
13
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. 38
31031081 2019
14
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report. 38
31136308 2019
15
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes. 38
30761551 2019
16
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report. 38
30557775 2019
17
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. 38
30993714 2019
18
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]. 38
30950014 2019
19
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers. 38
30445591 2019
20
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. 38
30902101 2019
21
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency. 38
31240159 2019
22
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. 38
30617651 2019
23
Cofactors revisited - Predicting the impact of flavoprotein-related diseases on a genome scale. 38
30385409 2019
24
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant. 38
30128629 2019
25
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis. 38
30801335 2019
26
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 38
30681493 2019
27
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature. 38
30730842 2019
28
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. 38
30401918 2019
29
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. 38
30315213 2019
30
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result. 38
30721391 2019
31
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP]. 38
30675864 2019
32
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. 38
30740737 2019
33
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. 38
30612563 2019
34
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. 38
30723736 2019
35
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report. 38
31191348 2019
36
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. 38
30311138 2019
37
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency. 38
31418342 2019
38
ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology. 38
30709034 2019
39
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease. 38
30446350 2019
40
Metabolic lipid muscle disorders: biomarkers and treatment. 38
31040882 2019
41
Coenzyme Q10 serves to couple mitochondrial oxidative phosphorylation and fatty acid β-oxidation, and attenuates NLRP3 inflammasome activation. 38
30003820 2018
42
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report. 38
30587156 2018
43
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 38
30072122 2018
44
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency. 38
30318261 2018
45
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases. 38
30027710 2018
46
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report. 38
30508893 2018
47
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 38
30424791 2018
48
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy]. 38
30477628 2018
49
Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature. 38
30510944 2018
50
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). 38
30194637 2018

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:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 PCK2 PC OTC HADHA ETFDH ETFB
2
Show member pathways
12.68 HADHA ACADVL ACADS ACADM ACADL
3
Show member pathways
11.84 HADHA ACADSB ACADS ACADM ACAD8
4
Show member pathways
11.68 PCK2 PC CS
5 11.68 PC OTC CS ASS1 ACADM
6
Show member pathways
11.49 PC OTC HADHA CS ASS1 ACADS
7
Show member pathways
11.47 HADHA ACADVL ACADS ACADM ACADL
8 11.46 PCK2 ACADM ACADL
9
Show member pathways
11.08 HADHA ACADVL ACADS ACADM ACADL
10
Show member pathways
10.95 OTC ASS1
11
Show member pathways
10.9 OTC ASS1
12
Show member pathways
10.78 HADHA ACADSB
13
Show member pathways
10.57 PC ASS1
14
Show member pathways
10.43 HADHA 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 9.83 PCK2 PC OTC HADHA ETFDH ETFB
2 mitochondrial membrane GO:0031966 9.46 ETFDH ACADVL ACADM ACADL
3 mitochondrial matrix GO:0005759 9.44 PCK2 PC OTC ETFDH ETFB ETFA

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 PC HADHA CHKA ACADVL ACADSB ACADS
2 fatty acid metabolic process GO:0006631 9.8 HADHA ACADVL ACADSB ACADS ACADM ACADL
3 electron transport chain GO:0022900 9.7 ETFDH ETFB ETFA
4 fatty acid beta-oxidation GO:0006635 9.65 HADHA ACADVL ACADS ACADM ACADL
5 oxidation-reduction process GO:0055114 9.65 HADHA ETFDH ETFB ETFA ACADVL ACADSB
6 temperature homeostasis GO:0001659 9.57 ACADVL ACADL
7 pyruvate metabolic process GO:0006090 9.56 PCK2 PC
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.55 ACADVL ACADL
9 branched-chain amino acid catabolic process GO:0009083 9.54 ACADSB ACAD8
10 regulation of cholesterol metabolic process GO:0090181 9.51 ACADVL ACADL
11 urea cycle GO:0000050 9.49 OTC ASS1
12 midgut development GO:0007494 9.48 OTC ASS1
13 positive regulation of neuron projection arborization GO:0150012 9.46 DVL2 DLG4
14 arginine biosynthetic process GO:0006526 9.43 OTC ASS1
15 negative regulation of fatty acid oxidation GO:0046322 9.4 ACADVL ACADL
16 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADM ACADL
17 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.17 ETFDH ETFB ETFA ACADVL ACADS 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 9.91 HADHA ETFDH ETFA ACADVL ACADSB ACADS
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.63 ACADVL ACADSB ACADS ACADM ACADL ACAD8
3 electron transfer activity GO:0009055 9.58 ETFDH ETFB ETFA
4 flavin adenine dinucleotide binding GO:0050660 9.56 ETFDH ETFA ACADVL ACADSB ACADS ACADM
5 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACADL
6 amino acid binding GO:0016597 9.43 OTC ASS1
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADVL ACADL
8 acyl-CoA dehydrogenase activity GO:0003995 9.1 ACADVL ACADSB ACADS ACADM ACADL ACAD8

Sources for Acyl-Coa Dehydrogenase Deficiency

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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