ACADVLD
MCID: ACY010
MIFTS: 63

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of (ACADVLD)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

MalaCards integrated aliases for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

Name: Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 57
Vlcad Deficiency 57 40 73 25 20 43 58 72 36 13
Very Long Chain Acyl-Coa Dehydrogenase Deficiency 12 58 29 6 15 70
Very Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 40 25 43
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency 25 20 43
Long Chain Acyl-Coa Dehydrogenase Deficiency 29 6 70
Lcad Deficiency 40 20 72
Acadl Deficiency 20 72
Acadvld 57 72
Vlcadd 20 58
Long Chain/very Long Chain Acyl Coa Dehydrogenase Deficiency 70
Very Long-Chain Acyl Coenzyme a Dehydrogenase Deficiency 43
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency of 73
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase 39
Acyl-Coa Dehydrogenase Very Long Chain Deficiency 43
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency 72
Long-Chain Acyl-Coa Dehydrogenase Deficiency 20
Acyl-Coa Dehydrogenase Long-Chain Deficiency 72
Vlcad-C 43
Vlcad-H 43
Acadvl 43

Characteristics:

Orphanet epidemiological data:

58
very long chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Germany); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
three main clinical forms
severe, early-onset, usually within the first days of life, with cardiomyopathy and early death
milder, childhood form, with onset by age 4 years, lesser cardiac involvement, and hypoketotic hypoglycemia
mild adult form, with onset after age 13 years, no cardiac involvement, and restricted to muscle involvement with rhabdomyolysis


HPO:

31
acyl-coa dehydrogenase, very long-chain, deficiency of:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Severe forms are suspected to be fully penetrant....

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

MedlinePlus Genetics : 43 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they usually involve muscle pain and the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown.In both children and adults, problems related to VLCAD deficiency can be triggered by periods of fasting, illness, and exercise. In affected children, this disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of, also known as vlcad deficiency, is related to citrullinemia, classic and complement component 2 deficiency, and has symptoms including vomiting and lethargy. An important gene associated with Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of is ACADVL (Acyl-CoA Dehydrogenase Very Long Chain), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Glycerol and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and heart, and related phenotypes are increased circulating free fatty acid level and hypothermia

Disease Ontology : 12 A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids.

GARD : 20 VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes ( mutations ) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

OMIM® : 57 Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (201450), short-chain acyl-CoA dehydrogenase deficiency (201470), and very long-chain acyl-CoA dehydrogenase deficiency. VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999). Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001). (201475) (Updated 05-Apr-2021)

KEGG : 36 Very long chain acyl-coA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of fatty acid oxidation. Three phenotypes of VLCAD deficiency have been identified; an early onset, insidious type that causes a potentially lethal cardiomyopathy, a later onset type that presents with hypoketotic hypoglycaemia, and an adult onset form that mainly causes muscular symptoms.

UniProtKB/Swiss-Prot : 72 Acyl-CoA dehydrogenase very long-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.

Wikipedia : 73 Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which... more...

GeneReviews: NBK6816

Related Diseases for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 citrullinemia, classic 31.6 HADHA ETFDH ACADVL
2 complement component 2 deficiency 31.4 HADHA ACADVL
3 chanarin-dorfman syndrome 31.3 ETFDH ETFB ACADVL
4 3-hydroxyacyl-coa dehydrogenase deficiency 31.3 HADHA HADH ACADVL ACADM
5 carnitine-acylcarnitine translocase deficiency 31.1 SLC25A20 HADHA ETFDH CPT2 ACADVL
6 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.9 DLG4 CPT2 ACADVL
7 myoglobinuria, recurrent 30.8 CPT2 ACADVL
8 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 30.8 HADHB HADHA HADH ACADVL ACADM
9 isovaleric acidemia 30.7 MMAA HADHA ACADVL ACADS
10 reye syndrome 30.5 ETFDH CPT2 ACADM
11 carnitine palmitoyltransferase i deficiency 30.5 HADHB HADHA CPT2 ACADVL ACADS ACADM
12 carnitine palmitoyltransferase ii deficiency, infantile 30.5 SLC25A20 HADHA HADH ETFDH CPT2 ACADVL
13 acyl-coa dehydrogenase deficiency 30.5 ETFDH ETFA ACADVL ACADM
14 myoglobinuria 30.3 HADH CPT2 ACADVL
15 propionic acidemia 30.1 MMAA HADHA CPT2 ACADVL
16 3-methylcrotonyl-coa carboxylase deficiency 29.8 MMAA MCCC1 HADHA HADH GCDH ACADVL
17 maple syrup urine disease 29.7 SLC25A20 MMAA HADHA HADH ACADM
18 acyl-coa dehydrogenase, short-chain, deficiency of 29.6 MCCC1 HADHA HADH ETFDH ETFA CPT2
19 myopathy 29.5 HADHA ETFDH ETFB CPT2 ACADVL ACADS
20 hypoglycemia 29.5 SLC25A20 HADHB HADHA HADH CPT2 ACADVL
21 multiple acyl-coa dehydrogenase deficiency 29.1 SLC25A20 HADHA HADH GCDH ETFDH ETFB
22 acyl-coa dehydrogenase, medium-chain, deficiency of 28.9 SLC25A20 HADHA HADH ETFDH ETFB ETFA
23 carnitine deficiency, systemic primary 28.5 SLC25A20 HADHB HADHA HADH GCDH ETFDH
24 mitochondrial trifunctional protein deficiency 28.5 SLC25A20 HADHB HADHA HADH ETFDH ETFB
25 dystonia 9 10.8
26 vitamin b12 deficiency 10.8
27 hepatic coma 10.5
28 metabolic acidosis 10.5
29 hypertrophic cardiomyopathy 10.5
30 hypotonia 10.5
31 respiratory failure 10.5
32 hepatic encephalopathy 10.5
33 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.4
34 ocular motor apraxia 10.3
35 heart disease 10.3
36 hemopericardium 10.3
37 pericardial effusion 10.3
38 liver disease 10.3
39 ovarian cyst 10.3
40 kidney disease 10.3
41 fatty liver disease 10.3
42 dysferlinopathy 10.3
43 qualitative or quantitative defects of dysferlin 10.3
44 progressive familial heart block, type ia 10.3
45 phenylketonuria 10.3
46 body mass index quantitative trait locus 11 10.3
47 body mass index quantitative trait locus 9 10.3
48 body mass index quantitative trait locus 8 10.3
49 progressive familial heart block, type ib 10.3
50 body mass index quantitative trait locus 4 10.3

Graphical network of the top 20 diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:



Diseases related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Symptoms & Phenotypes for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Human phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating free fatty acid level 58 31 frequent (33%) Frequent (79-30%) HP:0030781
2 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
3 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
4 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
5 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
6 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
7 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
8 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
9 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
10 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
11 episodic tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002876
12 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
13 hypoketotic hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001985
14 overweight 58 31 occasional (7.5%) Occasional (29-5%) HP:0025502
15 exercise-induced rhabdomyolysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009045
16 macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000256
17 vomiting 58 31 very rare (1%) Very rare (<4-1%) HP:0002013
18 obesity 58 31 very rare (1%) Very rare (<4-1%) HP:0001513
19 prolonged qt interval 58 31 very rare (1%) Very rare (<4-1%) HP:0001657
20 dilated cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001644
21 atrioventricular block 58 31 very rare (1%) Very rare (<4-1%) HP:0001678
22 hypocalcemia 58 31 very rare (1%) Very rare (<4-1%) HP:0002901
23 hyperammonemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001987
24 anteriorly placed anus 58 31 very rare (1%) Very rare (<4-1%) HP:0001545
25 lethargy 58 31 very rare (1%) Very rare (<4-1%) HP:0001254
26 metabolic acidosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001942
27 pneumonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002090
28 pericardial effusion 58 31 very rare (1%) Very rare (<4-1%) HP:0001698
29 hypoproteinemia 58 31 very rare (1%) Very rare (<4-1%) HP:0003075
30 inflammatory abnormality of the skin 58 31 very rare (1%) Very rare (<4-1%) HP:0011123
31 ventricular tachycardia 58 31 very rare (1%) Very rare (<4-1%) HP:0004756
32 infantile muscular hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0008947
33 pain 58 31 very rare (1%) Very rare (<4-1%) HP:0012531
34 muscle spasm 58 31 very rare (1%) Very rare (<4-1%) HP:0003394
35 enlarged cisterna magna 58 31 very rare (1%) Very rare (<4-1%) HP:0002280
36 ventricular fibrillation 58 31 very rare (1%) Very rare (<4-1%) HP:0001663
37 tachypnea 58 31 Very rare (<4-1%) HP:0002789
38 muscle weakness 31 HP:0001324
39 sudden cardiac death 31 HP:0001645
40 hepatic steatosis 31 HP:0001397
41 atrial septal defect 58 Occasional (29-5%)
42 hypertrophic cardiomyopathy 31 HP:0001639
43 muscle stiffness 31 HP:0003552
44 arrhythmia 58 Very rare (<4-1%)
45 tachycardia 58 Very rare (<4-1%)
46 generalized hypotonia 31 HP:0001290
47 nonketotic hypoglycemia 31 HP:0001958
48 exercise-induced myalgia 31 HP:0003738
49 decreased plasma carnitine 31 HP:0003234
50 dicarboxylic aciduria 31 HP:0003215

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
sudden cardiac death
hypertrophic cardiomyopathy
cardiac arrest

Abdomen Gastrointestinal:
vomiting

Respiratory:
tachypnea

Laboratory Abnormalities:
decreased plasma carnitine
dicarboxylic aciduria
decreased very long-chain acyl-coa dehydrogenase protein and activity
exercise-induced myoglobinuria in adults
increased serum creatine kinase in patients with muscle involvement

Abdomen Liver:
hepatomegaly
hepatic steatosis
hepatocellular necrosis

Neurologic Central Nervous System:
lethargy

Metabolic Features:
nonketotic hypoglycemia

Muscle Soft Tissue:
hypotonia
muscle weakness associated with fasting or infection
muscle pain with exercise (in older patients)
muscle stiffness (in older patients)
rhabdomyolysis with exercise (in older patients)
more

Clinical features from OMIM®:

201475 (Updated 05-Apr-2021)

UMLS symptoms related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:


vomiting; lethargy

GenomeRNAi Phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.98 CPT2 DLG4
2 Decreased viability GR00221-A-4 9.98 CPT2
3 Decreased viability GR00249-S 9.98 ACADM ETFA HADH
4 Decreased viability GR00386-A-1 9.98 ACADL ACADM ACADS DMGDH ETFB HADHA
5 Decreased viability GR00402-S-2 9.98 ACADL ACADM ACADS ACADVL CPT2 ETFB
6 Decreased hepcidin::fluc mRNA expression GR00253-A 9.7 ACADS ACADVL DMGDH ETFDH GCDH MCCC1
7 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.17 ACADL ACADS HADH HADHA HADHB MCCC1

MGI Mouse Phenotypes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 ACADL ACADM ACADVL CPT2 ETFDH HADHA
2 homeostasis/metabolism MP:0005376 9.73 ACADL ACADM ACADS ACADVL CPT2 DLG4
3 liver/biliary system MP:0005370 9.17 ACADL ACADM ACADS ACADVL HADHA HADHB

Drugs & Therapeutics for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2
Bezafibrate Approved, Investigational Phase 2 41859-67-0 39042
3 Lipid Regulating Agents Phase 2
4 Antimetabolites Phase 2
5 Hypolipidemic Agents Phase 2
6
Heparin Approved, Investigational 9005-49-6 772 9812414
7 insulin
8 Pharmaceutical Solutions
9 Anticoagulants
10 Protective Agents
11 Parenteral Nutrition Solutions
12 Fat Emulsions, Intravenous
13 Fibrinolytic Agents
14 Soybean oil, phospholipid emulsion
15 Soy Bean
16 Insulin, Globin Zinc
17 calcium heparin
18 pyruvate

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 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
3 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
4 Role of Fatty Acid Oxidation Defects in Insulin Sensitivity Completed NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
5 Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use Completed NCT03531554
6 Dietary Therapy for Inherited Disorders of Energy Metabolism No longer available NCT01461304 triheptanoin

Search NIH Clinical Center for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Genetic Tests for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Genetic tests related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

# Genetic test Affiliating Genes
1 Very Long Chain Acyl-Coa Dehydrogenase Deficiency 29 ACADVL
2 Long Chain Acyl-Coa Dehydrogenase Deficiency 29 ACADL

Anatomical Context for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

MalaCards organs/tissues related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

40
Skeletal Muscle, Liver, Heart, Brain, Skin, Fetal Brain

Publications for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Articles related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

(show top 50) (show all 227)
# Title Authors PMID Year
1
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 25 57 6 61
27209629 2016
2
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 57 6 25 61
17999356 2007
3
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 57 25 6 61
9973285 1999
4
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 61 57 6 25
7479827 1995
5
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. 61 25 6 57
7668252 1995
6
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 6 25 57
4022672 1985
7
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 61 57 6
27246109 2016
8
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. 61 6 57
25456746 2014
9
A new diagnostic test for VLCAD deficiency using immunohistochemistry. 61 6 57
15210884 2004
10
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 61 6 57
10077518 1999
11
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. 6 61 57
9709714 1998
12
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 57 61 6
7769092 1995
13
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 61 25 6
26453363 2016
14
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. 61 25 6
25834949 2015
15
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 25 6 61
26385305 2015
16
Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. 25 6 61
23430950 2012
17
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. 25 6 61
21814341 2011
18
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 25 61 6
19327992 2009
19
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 6 61 25
17374501 2007
20
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. 6 25 61
16488171 2006
21
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. 6 57
11158518 2001
22
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. 61 25 57
8466512 1993
23
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. 25 6
24503138 2014
24
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency. 6 61
31031081 2019
25
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study. 61 6
31620161 2019
26
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan. 6 61
29552494 2018
27
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation. 61 6
30023301 2018
28
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. 61 6
28755359 2018
29
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. 61 6
27995075 2017
30
Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 6 61
27943070 2017
31
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. 61 6
25338548 2015
32
Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis. 6 61
25242572 2014
33
Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts. 6 61
24898617 2014
34
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. 6 61
24801231 2014
35
Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. 61 6
24263034 2013
36
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency. 6 61
24765510 2013
37
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. 6 61
23867825 2013
38
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 6 61
23480858 2013
39
Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. 6 61
22847164 2012
40
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening. 61 6
23430948 2012
41
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. 61 6
21378393 2011
42
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency 6 61
20301763 2009
43
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. 61 6
19208414 2009
44
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. 61 6
18670371 2008
45
Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. 6 61
18227065 2008
46
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties. 61 6
17514507 2007
47
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. 61 6
17206456 2007
48
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency. 61 57
17636072 2007
49
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. 61 57
16115821 2005
50
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting. 61 6
16435213 2005

Variations for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

ClinVar genetic disease variations for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

6 (show top 50) (show all 705)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACADVL ACADVL, 105-BP DEL Deletion Pathogenic 1621 GRCh37:
GRCh38:
2 ACADVL NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) SNV Pathogenic 1628 rs118204015 GRCh37: 17:7126518-7126518
GRCh38: 17:7223199-7223199
3 ACADVL NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) SNV Pathogenic 1632 rs118204017 GRCh37: 17:7127326-7127326
GRCh38: 17:7224007-7224007
4 ACADVL NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) Duplication Pathogenic 417917 rs1060499596 GRCh37: 17:7127698-7127699
GRCh38: 17:7224379-7224380
5 ACADVL NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) SNV Pathogenic 439361 rs201676770 GRCh37: 17:7126060-7126060
GRCh38: 17:7222741-7222741
6 ACADVL NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) SNV Pathogenic 474895 rs750653177 GRCh37: 17:7124146-7124146
GRCh38: 17:7220827-7220827
7 ACADVL NM_000018.4(ACADVL):c.864del (p.Phe288fs) Deletion Pathogenic 522433 rs1555528386 GRCh37: 17:7125607-7125607
GRCh38: 17:7222288-7222288
8 ACADVL NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) Deletion Pathogenic 541714 rs1329022268 GRCh37: 17:7123474-7123483
GRCh38: 17:7220155-7220164
9 ACADVL NM_000018.4(ACADVL):c.104del (p.Pro35fs) Deletion Pathogenic 541718 rs1443151475 GRCh37: 17:7123480-7123480
GRCh38: 17:7220161-7220161
10 ACADVL NM_000018.4(ACADVL):c.1269+1G>A SNV Pathogenic 555644 rs773401248 GRCh37: 17:7127050-7127050
GRCh38: 17:7223731-7223731
11 ACADVL NM_000018.4(ACADVL):c.192dup (p.Pro65fs) Duplication Pathogenic 569888 rs771055189 GRCh37: 17:7123830-7123831
GRCh38: 17:7220511-7220512
12 ACADVL NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) Duplication Pathogenic 581080 rs746860401 GRCh37: 17:7125299-7125300
GRCh38: 17:7221980-7221981
13 ACADVL NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) Deletion Pathogenic 581398 rs1567565643 GRCh37: 17:7126114-7126133
GRCh38: 17:7222795-7222814
14 overlap with 12 genes NC_012920.1:m.8480_13440del Deletion Pathogenic 638146 GRCh37: MT:8480-13440
GRCh38: MT:8480-13440
15 overlap with 13 genes NC_012920.1:m.8350_13450del Deletion Pathogenic 638147 GRCh37: MT:8350-13450
GRCh38: MT:8350-13450
16 ACADVL NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) Duplication Pathogenic 648624 rs1597520263 GRCh37: 17:7124113-7124114
GRCh38: 17:7220794-7220795
17 ACADVL NM_000018.4(ACADVL):c.552del (p.Ile184fs) Deletion Pathogenic 650581 rs1597525249 GRCh37: 17:7124931-7124931
GRCh38: 17:7221612-7221612
18 ACADVL NM_000018.4(ACADVL):c.1605+2T>C SNV Pathogenic 656452 rs1597537351 GRCh37: 17:7127714-7127714
GRCh38: 17:7224395-7224395
19 ACADVL NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter) SNV Pathogenic 660424 rs1597534677 GRCh37: 17:7127156-7127156
GRCh38: 17:7223837-7223837
20 ACADVL NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) Duplication Pathogenic 661308 rs1175359422 GRCh37: 17:7127321-7127322
GRCh38: 17:7224002-7224003
21 ACADVL NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) SNV Pathogenic 617952 rs765432568 GRCh37: 17:7123843-7123843
GRCh38: 17:7220524-7220524
22 ACADVL NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter) SNV Pathogenic 810875 rs1597533847 GRCh37: 17:7126974-7126974
GRCh38: 17:7223655-7223655
23 ACADVL NM_000018.4(ACADVL):c.623-1G>A SNV Pathogenic 811525 rs1597526782 GRCh37: 17:7125270-7125270
GRCh38: 17:7221951-7221951
24 ACADVL NM_000018.4(ACADVL):c.688dup (p.Thr230fs) Duplication Pathogenic 844921 GRCh37: 17:7125334-7125335
GRCh38: 17:7222015-7222016
25 ACADVL NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs) Duplication Pathogenic 846935 GRCh37: 17:7127798-7127799
GRCh38: 17:7224479-7224480
26 ACADVL NM_000018.4(ACADVL):c.1508del (p.Gly503fs) Deletion Pathogenic 839947 GRCh37: 17:7127537-7127537
GRCh38: 17:7224218-7224218
27 ACADVL NM_000018.4(ACADVL):c.1497_1499CCT[1] (p.Leu502del) Microsatellite Pathogenic 854401 GRCh37: 17:7127527-7127529
GRCh38: 17:7224208-7224210
28 ACADVL NM_000018.4(ACADVL):c.565_587del (p.Ile189fs) Deletion Pathogenic 856881 GRCh37: 17:7124937-7124959
GRCh38: 17:7221618-7221640
29 ACADVL NM_000018.4(ACADVL):c.128del (p.Gly43fs) Deletion Pathogenic 857574 GRCh37: 17:7123502-7123502
GRCh38: 17:7220183-7220183
30 ACADVL NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) SNV Pathogenic 867228 GRCh37: 17:7126018-7126018
GRCh38: 17:7222699-7222699
31 ACADVL NM_000018.4(ACADVL):c.343-1G>A SNV Pathogenic 203594 rs796051918 GRCh37: 17:7124242-7124242
GRCh38: 17:7220923-7220923
32 ACADVL NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter) SNV Pathogenic 932735 GRCh37: 17:7124243-7124243
GRCh38: 17:7220924-7220924
33 ACADVL NM_000018.4(ACADVL):c.541dup (p.His181fs) Duplication Pathogenic 932736 GRCh37: 17:7124917-7124918
GRCh38: 17:7221598-7221599
34 ACADVL NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter) SNV Pathogenic 932737 GRCh37: 17:7125316-7125316
GRCh38: 17:7221997-7221997
35 ACADVL NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) SNV Pathogenic 932787 GRCh37: 17:7124376-7124376
GRCh38: 17:7221057-7221057
36 ACADVL NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) SNV Pathogenic 932788 GRCh37: 17:7124956-7124956
GRCh38: 17:7221637-7221637
37 ACADVL NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) SNV Pathogenic 932789 GRCh37: 17:7124981-7124981
GRCh38: 17:7221662-7221662
38 ACADVL NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) SNV Pathogenic 932842 GRCh37: 17:7127171-7127171
GRCh38: 17:7223852-7223852
39 ACADVL NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter) SNV Pathogenic 932843 GRCh37: 17:7125394-7125394
GRCh38: 17:7222075-7222075
40 ACADVL NM_000018.4(ACADVL):c.753-2A>G SNV Pathogenic 932844 GRCh37: 17:7125494-7125494
GRCh38: 17:7222175-7222175
41 ACADVL NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) Deletion Pathogenic 932845 GRCh37: 17:7125540-7125541
GRCh38: 17:7222221-7222222
42 ACADVL NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) Microsatellite Pathogenic 932846 GRCh37: 17:7125596-7125597
GRCh38: 17:7222277-7222278
43 ACADVL NM_000018.4(ACADVL):c.869dup (p.Ile291fs) Duplication Pathogenic 291163 rs886044671 GRCh37: 17:7125607-7125608
GRCh38: 17:7222288-7222289
44 ACADVL NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) Microsatellite Pathogenic 932847 GRCh37: 17:7126031-7126032
GRCh38: 17:7222712-7222713
45 ACADVL NM_000018.4(ACADVL):c.1039del (p.Ala347fs) Deletion Pathogenic 932848 GRCh37: 17:7126145-7126145
GRCh38: 17:7222826-7222826
46 ACADVL NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) Indel Pathogenic 932849 GRCh37: 17:7126163-7126165
GRCh38: 17:7222844-7222846
47 ACADVL NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) Microsatellite Pathogenic 932850 GRCh37: 17:7126163-7126164
GRCh38: 17:7222844-7222845
48 ACADVL NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter) Insertion Pathogenic 932851 GRCh37: 17:7126972-7126973
GRCh38: 17:7223653-7223654
49 ACADVL NM_000018.4(ACADVL):c.1316del (p.Gly439fs) Deletion Pathogenic 932852 GRCh37: 17:7127173-7127173
GRCh38: 17:7223854-7223854
50 ACADVL NM_000018.4(ACADVL):c.1317dup (p.Met440fs) Duplication Pathogenic 595610 rs1567567440 GRCh37: 17:7127178-7127179
GRCh38: 17:7223859-7223860

UniProtKB/Swiss-Prot genetic disease variations for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of:

72 (show all 37)
# Symbol AA change Variation ID SNP ID
1 ACADVL p.Thr158Asn VAR_000332
2 ACADVL p.Gln159Arg VAR_000333 rs746688190
3 ACADVL p.Val174Met VAR_000334 rs369560930
4 ACADVL p.Gly185Ser VAR_000335 rs545215807
5 ACADVL p.Glu218Lys VAR_000336 rs143218307
6 ACADVL p.Leu243Arg VAR_000337
7 ACADVL p.Lys247Thr VAR_000338
8 ACADVL p.Thr260Met VAR_000339 rs113994168
9 ACADVL p.Ala281Asp VAR_000341
10 ACADVL p.Val283Ala VAR_000342 rs113994167
11 ACADVL p.Gly290Asp VAR_000343 rs866464446
12 ACADVL p.Gly294Glu VAR_000344 rs200573371
13 ACADVL p.Lys299Asn VAR_000345 rs774716484
14 ACADVL p.Val317Ala VAR_000347 rs398123095
15 ACADVL p.Met352Val VAR_000348
16 ACADVL p.Arg366Cys VAR_000349 rs771874163
17 ACADVL p.Arg366His VAR_000350 rs112406105
18 ACADVL p.Lys382Gln VAR_000352 rs118204015
19 ACADVL p.Asp405His VAR_000353
20 ACADVL p.Gly441Asp VAR_000354 rs2309689
21 ACADVL p.Arg450His VAR_000355 rs118204016
22 ACADVL p.Arg453Gln VAR_000356 rs138058572
23 ACADVL p.Asp454Asn VAR_000357 rs141960620
24 ACADVL p.Arg456His VAR_000358 rs794727112
25 ACADVL p.Arg459Trp VAR_000359 rs766742117
26 ACADVL p.Gly463Glu VAR_000360 rs200366828
27 ACADVL p.Arg469Gln VAR_000361 rs398123083
28 ACADVL p.Arg469Trp VAR_000362 rs113994170
29 ACADVL p.Leu502Pro VAR_000363
30 ACADVL p.Leu602Ile VAR_000364
31 ACADVL p.Arg613Trp VAR_000365 rs118204014
32 ACADVL p.Ala213Pro VAR_010101 rs140629318
33 ACADVL p.Lys247Glu VAR_010102 rs387906253
34 ACADVL p.Phe458Leu VAR_010103 rs118204017
35 ACADVL p.Ala490Pro VAR_010104 rs759775666
36 ACADVL p.Arg615Gln VAR_010106 rs148584617
37 ACADVL p.Ser583Trp VAR_083892

Expression for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Search GEO for disease gene expression data for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of.

Pathways for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Pathways related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SLC25A20 MMAA MCCC1 HADHB HADHA HADH
2
Show member pathways
13.2 SLC25A20 ETFDH ETFB ETFA CPT2 ACAD9
3
Show member pathways
12.73 SLC25A20 MMAA HADHB HADHA HADH CPT2
4
Show member pathways
12.26 HADHB HADHA HADH GCDH CPT2 ACADVL
5 11.97 HADHB HADHA ACADM
6
Show member pathways
11.95 MCCC1 HADHB HADHA HADH ACADS ACADM
7
Show member pathways
11.73 HADHB HADHA HADH
8
Show member pathways
11.69 HADHA HADH GCDH
9 11.67 MCCC1 HADH ACADM
10 11.57 CPT2 ACADM ACADL
11 11.47 HADHA HADH GCDH
12
Show member pathways
11.38 HADHB HADH ACADL
13
Show member pathways
11.38 MMAA HADHB HADHA HADH ACADVL ACADS
14 11.28 HADH ACADVL ACADM
15
Show member pathways
11.19 HADHA HADH ACADS
16 11.14 HADHA ACADS
17
Show member pathways
11.12 HADHA ACADS
18
Show member pathways
11.05 SLC25A20 HADHB HADHA HADH GCDH CPT2
19 10.99 CPT2 ACADM
20
Show member pathways
10.87 HADHB HADHA
21
Show member pathways
10.67 HADHB HADHA HADH ACADM
22 10.57 SLC25A20 CPT2

GO Terms for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

Cellular components related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.73 MMAA MCCC1 HADH GCDH ETFDH ETFB
2 mitochondrial inner membrane GO:0005743 9.7 SLC25A20 HADHB HADHA ETFDH CPT2 ACADVL
3 mitochondrial membrane GO:0031966 9.65 ETFDH ACADVL ACADM ACADL ACAD9
4 mitochondrion GO:0005739 9.55 SLC25A20 MMAA MCCC1 HADHB HADHA HADH
5 mitochondrial nucleoid GO:0042645 9.5 HADHB HADHA ACADVL

Biological processes related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 HADHA HADH GCDH ETFDH ETFB ETFA
2 lipid metabolic process GO:0006629 9.92 HADHB HADHA HADH CPT2 ACADVL ACADS
3 fatty acid metabolic process GO:0006631 9.86 HADHB HADHA HADH CPT2 ACADVL ACADS
4 positive regulation of cold-induced thermogenesis GO:0120162 9.71 HADH CPT2 ACADL
5 electron transport chain GO:0022900 9.71 ETFDH ETFB ETFA DMGDH
6 long-chain fatty acid metabolic process GO:0001676 9.58 CPT2 ACAD9
7 temperature homeostasis GO:0001659 9.57 ACADVL ACADL
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.56 ACADVL ACADL
9 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.56 GCDH ETFDH ETFB ETFA ACADVL ACADS
10 regulation of cholesterol metabolic process GO:0090181 9.55 ACADVL ACADL
11 respiratory electron transport chain GO:0022904 9.54 ETFDH ETFB ETFA
12 carnitine shuttle GO:0006853 9.52 SLC25A20 CPT2
13 cardiolipin acyl-chain remodeling GO:0035965 9.51 HADHB HADHA
14 carnitine metabolic process GO:0009437 9.49 CPT2 ACADM
15 negative regulation of fatty acid oxidation GO:0046322 9.48 ACADVL ACADL
16 medium-chain fatty acid metabolic process GO:0051791 9.46 ACADM ACAD9
17 carnitine metabolic process, CoA-linked GO:0019254 9.43 ACADM ACADL
18 fatty acid beta-oxidation GO:0006635 9.23 HADHB HADHA HADH CPT2 ACADVL ACADS

Molecular functions related to Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.9 HADHA HADH GCDH ETFDH ETFA DMGDH
2 electron transfer activity GO:0009055 9.73 ETFDH ETFB ETFA DMGDH
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.73 GCDH ACADVL ACADS ACADM ACADL ACAD9
4 fatty-acyl-CoA binding GO:0000062 9.72 HADHA GCDH ACADVL ACADL ACAD9
5 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.58 HADHB HADHA HADH
6 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.54 ACADVL ACADL ACAD9
7 enoyl-CoA hydratase activity GO:0004300 9.51 HADHB HADHA
8 acetyl-CoA C-acyltransferase activity GO:0003988 9.49 HADHB HADHA
9 medium-chain-acyl-CoA dehydrogenase activity GO:0070991 9.48 ACADM ACAD9
10 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.46 ACADVL ACAD9
11 acyl-CoA dehydrogenase activity GO:0003995 9.43 GCDH ACADVL ACADS ACADM ACADL ACAD9
12 flavin adenine dinucleotide binding GO:0050660 9.23 GCDH ETFDH ETFA ACADVL ACADS ACADM

Sources for Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....