MCID: ACY011
MIFTS: 37

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 72 C0268635
Orphanet 58 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 multiple acyl-coa dehydrogenase deficiency, mild type. 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 liver, testes and brain, 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 141)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.2 ETFDH ETFB ETFA
2 multiple acyl-coa dehydrogenase deficiency, mild type 34.2 ETFDH ETFB ETFA
3 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 33.7 HADHA ACADVL ACADM
4 acyl-coa dehydrogenase, very long-chain, deficiency of 33.5 HADHA ETFDH ETFB ACADVL ACADS ACADM
5 acyl-coa dehydrogenase, medium-chain, deficiency of 32.9 SLC22A5 HADHA ETFDH ETFA ACADVL ACADS
6 multiple acyl-coa dehydrogenase deficiency 32.6 SLC22A5 HADHA ETFDH ETFB ETFA CHKA
7 acyl-coa dehydrogenase, short-chain, deficiency of 32.5 HADHA ETFDH ETFA ACADVL ACADSB ACADS
8 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.5 CHKA ACADVL
9 muscular lipidosis 31.2 ETFDH CHKA ACADS
10 atrial standstill 1 31.1 SLC22A5 HADHA ACADVL
11 abdominal obesity-metabolic syndrome 1 30.7 OTC ETFDH ACADM
12 carbonic anhydrase va deficiency, hyperammonemia due to 30.7 OTC ASS1
13 isovaleric acidemia 30.6 HADHA ACADVL ACADSB ACADS
14 isobutyryl-coa dehydrogenase deficiency 30.6 ETFDH ACAD8
15 riboflavin deficiency 30.4 ETFDH ETFA ACADS
16 hypoglycemia 29.8 SLC22A5 PCK2 PC HADHA ACADVL ACADM
17 phenylketonuria 29.8 OTC HADHA ASS1 ACADM
18 reye syndrome 28.7 SLC22A5 PC OTC HADHA ETFDH ASS1
19 2-methylbutyryl-coa dehydrogenase deficiency 12.7
20 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.6
21 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.6
22 myopathy 11.0
23 autosomal recessive disease 10.8
24 inherited metabolic disorder 10.8
25 hypotonia 10.8
26 ocular motor apraxia 10.8
27 sudden infant death syndrome 10.7
28 metabolic acidosis 10.6
29 myoglobinuria 10.6
30 encephalopathy 10.6
31 fatty liver disease, nonalcoholic 1 10.6
32 organic acidemia 10.6
33 fatty liver disease 10.6
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 leukodystrophy 10.4
42 respiratory failure 10.4
43 hepatic encephalopathy 10.4
44 polymyositis 10.4
45 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
46 scoliosis 10.3
47 cardiac arrest 10.3
48 microcephaly 10.3
49 dilated cardiomyopathy 10.3
50 sensory peripheral neuropathy 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:

45
# 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 9.44 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 9005-49-6 772 46507594
5
Calcium Approved, Nutraceutical 7440-70-2 271
6 Hypoglycemic Agents
7 Fibrinolytic Agents
8 Pharmaceutical Solutions
9 Anticoagulants
10 Insulin, Globin Zinc
11 insulin
12 Calcium, Dietary
13 Parenteral Nutrition Solutions
14 Soybean oil, phospholipid emulsion
15 Fat Emulsions, Intravenous
16 calcium heparin
17 Soy Bean

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:

40
Liver, Testes, Brain, Kidney, Heart, Skin, Cortex

Publications for Acyl-Coa Dehydrogenase Deficiency

Articles related to Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 759)
# Title Authors PMID Year
1
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data. 61
31910969 2020
2
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia. 61
31813752 2020
3
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
31955429 2020
4
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. 61
31904027 2020
5
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene. 61
31996215 2020
6
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. 61
31836396 2020
7
Multiple acyl-COA dehydrogenase deficiency in elderly carriers. 61
31997039 2020
8
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites. 61
31760122 2020
9
Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity. 61
31983732 2020
10
Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency. 61
31971349 2020
11
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers. 61
31844625 2019
12
Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75]. 61
31818519 2019
13
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations. 61
31852447 2019
14
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi]. 61
31703127 2019
15
The fate of medium-chain fatty acids in very long-chain acyl‑CoA dehydrogenase deficiency (VLCADD): A matter of sex? 61
31394165 2019
16
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result. 61
30721391 2019
17
Fatty liver in a two days old neonate. 61
31649231 2019
18
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. 61
31331668 2019
19
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. 61
30993714 2019
20
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose. 61
30990523 2019
21
Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 61
31312603 2019
22
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. 61
31268564 2019
23
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. 61
31392824 2019
24
Anesthetic management for a patient with medium-chain acyl-CoA dehydrogenase deficiency in an outpatient setting using ketamine and fentanyl. 61
30684927 2019
25
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. 61
30982706 2019
26
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. 61
30904546 2019
27
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. 61
31058673 2019
28
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype. 61
31215835 2019
29
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
30
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
31031081 2019
31
Needle EMG, a jigsaw to disclose lipid storage myopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency, a case report. 61
31136308 2019
32
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes. 61
30761551 2019
33
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report. 61
30557775 2019
34
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]. 61
30950014 2019
35
Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency. 61
31240159 2019
36
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era. 61
30617651 2019
37
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. 61
30902101 2019
38
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers. 61
30445591 2019
39
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. 61
30401918 2019
40
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant. 61
30128629 2019
41
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. 61
30315213 2019
42
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature. 61
30730842 2019
43
Cofactors revisited - Predicting the impact of flavoprotein-related diseases on a genome scale. 61
30385409 2019
44
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis. 61
30801335 2019
45
Clinical and muscle magnetic resonance image findings in patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 61
30681493 2019
46
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency. 61
31418342 2019
47
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. 61
30311138 2019
48
Metabolic lipid muscle disorders: biomarkers and treatment. 61
31040882 2019
49
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease. 61
30446350 2019
50
ETF-QO Mutants Uncoupled Fatty Acid β-Oxidation and Mitochondrial Bioenergetics Leading to Lipid Pathology. 61
30709034 2019

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 PCK2 PC OTC HADHA ETFDH ETFB
2
Show member pathways
12.66 HADHA ACADVL ACADS ACADM ACADL
3
Show member pathways
12.33 HADHA ACADVL ACADSB ACADS ACADM ACADL
4
Show member pathways
12.13 PC OTC HADHA CS ASS1 ACADS
5
Show member pathways
11.84 HADHA ACADSB ACADS ACADM ACAD8
6
Show member pathways
11.7 PCK2 PC CS
7 11.61 PC OTC CS ASS1 ACADM
8 11.49 PCK2 ACADM ACADL
9
Show member pathways
11.37 HADHA ACADVL ACADS ACADM ACADL
10
Show member pathways
11.08 HADHA ACADVL ACADS ACADM ACADL
11
Show member pathways
10.96 OTC ASS1
12
Show member pathways
10.92 OTC ASS1
13
Show member pathways
10.83 HADHA ACADSB
14
Show member pathways
10.59 PC ASS1
15
Show member pathways
10.46 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 inner membrane GO:0005743 9.56 OTC HADHA ETFDH ACADVL
3 mitochondrial membrane GO:0031966 9.46 ETFDH ACADVL ACADM ACADL
4 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 18)
# 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 9.69 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 response to zinc ion GO:0010043 9.58 OTC ASS1
7 pyruvate metabolic process GO:0006090 9.57 PCK2 PC
8 temperature homeostasis GO:0001659 9.56 ACADVL ACADL
9 branched-chain amino acid catabolic process GO:0009083 9.55 ACADSB ACAD8
10 negative regulation of fatty acid biosynthetic process GO:0045717 9.54 ACADVL ACADL
11 respiratory electron transport chain GO:0022904 9.54 ETFDH ETFB ETFA
12 regulation of cholesterol metabolic process GO:0090181 9.52 ACADVL ACADL
13 urea cycle GO:0000050 9.49 OTC ASS1
14 midgut development GO:0007494 9.48 OTC ASS1
15 negative regulation of fatty acid oxidation GO:0046322 9.46 ACADVL ACADL
16 arginine biosynthetic process GO:0006526 9.43 OTC ASS1
17 carnitine metabolic process, CoA-linked GO:0019254 9.4 ACADM ACADL
18 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 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACADL
5 amino acid binding GO:0016597 9.43 OTC ASS1
6 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADSB ACADS ACADM ACADL ACAD8
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADVL ACADL
8 flavin adenine dinucleotide binding GO:0050660 9.23 ETFDH ETFA ACADVL ACADSB ACADS ACADM

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 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
Content
Loading form....