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 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 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency. 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, liver and brain, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Acyl-CoA dehydrogenases (ACADs) are a class of enzymes that function to catalyze the initial step in... more...

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 143)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.2 FLAD1 ETFDH ETFB ETFA
2 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 33.7 HADHA ACADVL ACADM
3 multiple acyl-coa dehydrogenase deficiency, mild type 33.6 SLC25A32 FLAD1 ETFDH ETFB ETFA
4 acyl-coa dehydrogenase, very long-chain, deficiency of 33.1 SLC22A5 HADHA ETFDH ETFB ETFA ACADVL
5 acyl-coa dehydrogenase, medium-chain, deficiency of 32.6 SLC22A5 HADHA FLAD1 ETFDH ETFB ETFA
6 acyl-coa dehydrogenase, short-chain, deficiency of 32.3 SLC22A5 HADHA ETFDH ETFA ACADVL ACADSB
7 multiple acyl-coa dehydrogenase deficiency 31.9 SLC25A32 SLC22A5 HADHA FLAD1 ETFDH ETFB
8 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.8 CHKA ACADVL
9 muscular lipidosis 31.4 ETFDH CHKA ACADS
10 atrial standstill 1 31.2 SLC22A5 HADHA ACADVL
11 abdominal obesity-metabolic syndrome 1 30.9 OTC ETFDH ACADM
12 carbonic anhydrase va deficiency, hyperammonemia due to 30.9 OTC ASS1
13 isobutyryl-coa dehydrogenase deficiency 30.7 ETFDH ACAD8
14 isovaleric acidemia 30.7 HADHA ACADVL ACADSB ACADS
15 encephalopathy, ethylmalonic 30.3 ACADS ACAD8
16 methylmalonic acidemia 30.2 OTC ETFDH ACADS
17 fazio-londe disease 30.2 FLAD1 ETFDH ETFB ETFA ACADL
18 riboflavin deficiency 30.1 FLAD1 ETFDH ETFB ETFA ACADS
19 mitochondrial trifunctional protein deficiency 30.1 HADHA ETFDH ACADVL ACADS ACADM
20 phenylketonuria 30.0 OTC HADHA ASS1 ACADM
21 hypoglycemia 29.8 SLC22A5 PCK2 PC HADHA ACADVL ACADM
22 myopathy 29.5 SLC22A5 HADHA FLAD1 ETFDH ETFB ETFA
23 reye syndrome 29.4 SLC22A5 PC OTC HADHA ETFDH ASS1
24 2-methylbutyryl-coa dehydrogenase deficiency 12.7
25 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.7
26 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.6
27 autosomal recessive disease 10.9
28 hypotonia 10.8
29 inherited metabolic disorder 10.8
30 ocular motor apraxia 10.8
31 sudden infant death syndrome 10.7
32 metabolic acidosis 10.6
33 myoglobinuria 10.6
34 fatty liver disease 10.6
35 encephalopathy 10.6
36 fatty liver disease, nonalcoholic 1 10.6
37 organic acidemia 10.6
38 hypertrophic cardiomyopathy 10.5
39 hemopericardium 10.5
40 pericardial effusion 10.5
41 hepatic coma 10.5
42 hellp syndrome 10.5
43 polyneuropathy 10.5
44 neuropathy 10.5
45 leukodystrophy 10.4
46 respiratory failure 10.4
47 hepatic encephalopathy 10.4
48 polymyositis 10.4
49 progressive bulbar palsy 10.4 ETFDH ETFB
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.77 FLAD1
2 Decreased viability GR00221-A-1 9.77 PCK2
3 Decreased viability GR00221-A-2 9.77 CHKA DLG4 PCK2
4 Decreased viability GR00221-A-4 9.77 CHKA PCK2
5 Decreased viability GR00249-S 9.77 ACADM ETFA PCK2 SLC22A5
6 Decreased viability GR00342-S-2 9.77 CHKA
7 Decreased viability GR00386-A-1 9.77 ACADL ACADM ACADS CHKA ETFB HADHA
8 Decreased viability GR00402-S-2 9.77 ACADL ACADM ACADS ACADSB ACADVL CHKA

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 9.47 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 15)
# 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 Fibrinolytic Agents
6 Insulin, Globin Zinc
7 Fat Emulsions, Intravenous
8 Soy Bean
9 Soybean oil, phospholipid emulsion
10 Pharmaceutical Solutions
11 insulin
12 Parenteral Nutrition Solutions
13 calcium heparin
14 Anticoagulants
15 carnitine

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
5 UX007-EAP101: An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) With Triheptanoin (UX007). // UX007G-EAP102: An Open-label Intermediate-size Treatment Protocol for the Urgent Treatment of Seriously Ill Patients With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) With Triheptanoin (UX007) Available NCT03773770 Triheptanoin

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

Publications for Acyl-Coa Dehydrogenase Deficiency

Articles related to Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 781)
# Title Authors PMID Year
1
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population 61
32212602 2020
2
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots. 61
32061778 2020
3
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia. 61
32518924 2020
4
Needle EMG, a Jigsaw to Disclose Lipid Storage Myopathy Due to Multiple Acyl-CoA Dehydrogenase Deficiency. 61
31136308 2020
5
Conformational analysis of the riboflavin-responsive ETF:QO-p.Pro456Leu variant associated with mild multiple acyl-CoA dehydrogenase deficiency. 61
32087359 2020
6
Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD). 61
32558070 2020
7
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing. 61
32304307 2020
8
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. 61
31904027 2020
9
Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study. 61
32463482 2020
10
Multiple acyl-COA dehydrogenase deficiency in elderly carriers. 61
31997039 2020
11
A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family. 61
32393189 2020
12
Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population. 61
32447334 2020
13
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates. 61
32276429 2020
14
Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity. 61
31983732 2020
15
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients. 61
32499892 2020
16
Comment on: "Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers". 61
32052163 2020
17
[Multiple acyl-CoA dehydrogenase deficiency/glutaric aciduria type 2: difficult diagnosis, easy to treat]. 61
32076759 2020
18
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report. 61
32190638 2020
19
Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin. 61
32064983 2020
20
Reducing False-Positive Results in Newborn Screening Using Machine Learning. 61
32190768 2020
21
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes. 61
32216101 2020
22
Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study. 61
32143453 2020
23
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role? 61
32045933 2020
24
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data. 61
31910969 2020
25
Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75]. 61
31818519 2020
26
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
27
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report. 61
32292771 2020
28
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
29
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
31955429 2020
30
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
31
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency. 61
31836396 2020
32
Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency. 61
31971349 2020
33
Detection of allele frequencies of common c. 511C>T and c.625G>A variants in the ACADS gene in the Turkish population. 61
32253862 2020
34
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
35
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population. 61
32311243 2019
36
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations. 61
31852447 2019
37
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi]. 61
31703127 2019
38
The fate of medium-chain fatty acids in very long-chain acyl‑CoA dehydrogenase deficiency (VLCADD): A matter of sex? 61
31394165 2019
39
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result. 61
30721391 2019
40
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. 61
31331668 2019
41
Fatty liver in a two days old neonate. 61
31649231 2019
42
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose. 61
30990523 2019
43
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. 61
31392824 2019
44
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. 61
31268564 2019
45
Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 61
31312603 2019
46
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency. 61
30993714 2019
47
Anesthetic management for a patient with medium-chain acyl-CoA dehydrogenase deficiency in an outpatient setting using ketamine and fentanyl. 61
30684927 2019
48
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. 61
30982706 2019
49
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. 61
30904546 2019
50
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

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
13.23 SLC25A32 PCK2 PC OTC HADHA FLAD1
2
Show member pathways
12.68 HADHA ACADVL ACADS ACADM ACADL
3
Show member pathways
12.33 HADHA ACADVL ACADSB ACADS ACADM ACADL
4
Show member pathways
12.12 PC OTC HADHA CS ASS1 ACADS
5
Show member pathways
11.84 HADHA ACADSB ACADS ACADM ACAD8
6
Show member pathways
11.68 PCK2 PC CS
7 11.61 PC OTC CS ASS1 ACADM
8 11.52 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
10.43 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 mitochondrial matrix GO:0005759 9.8 PCK2 PC OTC FLAD1 ETFDH ETFB
2 mitochondrial inner membrane GO:0005743 9.65 SLC25A32 OTC HADHA ETFDH ACADVL
3 mitochondrial membrane GO:0031966 9.55 SLC25A32 ETFDH ACADVL ACADM ACADL
4 mitochondrion GO:0005739 9.55 SLC25A32 PCK2 PC OTC HADHA FLAD1

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 9.7 ETFDH ETFB ETFA
4 liver development GO:0001889 9.69 OTC ASS1 ACADM
5 fatty acid beta-oxidation GO:0006635 9.65 HADHA ACADVL ACADS ACADM ACADL
6 oxidation-reduction process GO:0055114 9.65 HADHA ETFDH ETFB ETFA ACADVL ACADSB
7 pyruvate metabolic process GO:0006090 9.58 PCK2 PC
8 temperature homeostasis GO:0001659 9.57 ACADVL ACADL
9 branched-chain amino acid catabolic process GO:0009083 9.56 ACADSB ACAD8
10 negative regulation of fatty acid biosynthetic process GO:0045717 9.55 ACADVL ACADL
11 regulation of cholesterol metabolic process GO:0090181 9.54 ACADVL ACADL
12 respiratory electron transport chain GO:0022904 9.54 ETFDH ETFB ETFA
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 identical protein binding GO:0042802 9.98 PC OTC FLAD1 CHKA ASS1 ACADM
2 oxidoreductase activity GO:0016491 9.91 HADHA ETFDH ETFA ACADVL ACADSB ACADS
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.63 ACADVL ACADSB ACADS ACADM ACADL ACAD8
4 electron transfer activity GO:0009055 9.58 ETFDH ETFB ETFA
5 fatty-acyl-CoA binding GO:0000062 9.5 HADHA ACADVL ACADL
6 amino acid binding GO:0016597 9.46 OTC ASS1
7 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADVL ACADSB ACADS ACADM ACADL ACAD8
8 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADVL ACADL
9 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
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