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GA2A
MCID: MLT118
MIFTS: 63

Multiple Acyl-Coa Dehydrogenase Deficiency (GA2A)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Multiple Acyl-Coa Dehydrogenase Deficiency

About this section

MalaCards integrated aliases for Multiple Acyl-Coa Dehydrogenase Deficiency:

Name: Multiple Acyl-Coa Dehydrogenase Deficiency 57 12 53 25 59 75 75 75 15
Madd 57 12 53 25 59 75
Glutaric Acidemia Iia 57 29 13 6 73
Ethylmalonic-Adipicaciduria 57 53 25 75
Glutaric Acidemia Iib 57 29 6 73
Ema 57 53 25 75
Glutaric Aciduria, Type 2 25 29 6
Glutaric Acidemia Type 2 12 53 59
Glutaric Acidemia Iic 57 29 6
Ga Ii 57 25 55
Multiple Acyl Coenzyme a Dehydrogenase Deficiency 44 73
Electron Transfer Flavoprotein Deficiency 12 25
Glutaric Acidemia Type Ii 53 25
Glutaric Aciduria Type 2 12 59
Glutaric Aciduria 2 53 73
Etfdh Deficiency 25 75
Etfa Deficiency 25 75
Etfb Deficiency 25 75
Mad Deficiency 12 59
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency 12
Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect 29
Electron Transfer Flavoprotein:ubiquinone Oxidoreductase 13
Multiple Fad Dehydrogenase Deficiency 25
Ethylmalonic-Adipicaciduria; Ema 57
Ethylmalonic Adipic Aciduria 76
Glutaric Acidemia Ii; Ga2 57
Glutaric Acidemia, Type 2 25
Glutaric Aciduria Iia 73
Glutaric Aciduria Iib 73
Glutaric Aciduria Iic 73
Glutaric Acidemia Ii 57
Glutaric Aciduria Ii 57
Glutaric Aciduria 2a 75
Glutaricaciduria Iia 75
Glutaric Aciduria 2b 75
Glutaricaciduria Iib 75
Glutaric Aciduria 2c 75
Glutaricaciduria Iic 75
Glutaricaciduria Ii 76
Glutaric Acidemia 2 53
Gaiia 75
Gaiib 75
Gaiic 75
Ga 2 53
Ga2a 75
Ga2b 75
Ga2c 75
Ga2 57
Mad 25

Characteristics:

Orphanet epidemiological data:

59
multiple acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
multiple acyl-coa dehydrogenase deficiency:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Inborn errors of metabolism


Sources

Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency

About this section
OMIM : 57 Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1; 231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). (231680)

MalaCards based summary : Multiple Acyl-Coa Dehydrogenase Deficiency, also known as madd, is related to multiple acyl-coa dehydrogenase deficiency, severe neonatal type and multiple acyl-coa dehydrogenase deficiency, mild type. An important gene associated with Multiple Acyl-Coa Dehydrogenase Deficiency is ETFDH (Electron Transfer Flavoprotein Dehydrogenase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Titanium dioxide and Ganciclovir have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are macrocephaly and muscular hypotonia

Disease Ontology : 12 An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes

Genetics Home Reference : 25 Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

NIH Rare Diseases : 53 Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet.

UniProtKB/Swiss-Prot : 75 Glutaric aciduria 2A: An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids.

Wikipedia : 76 Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic... more...

Sources

Related Diseases for Multiple Acyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 33.9 ETFA ETFB ETFDH FLAD1
2 multiple acyl-coa dehydrogenase deficiency, mild type 33.9 ETFA ETFB ETFDH FLAD1
3 riboflavin deficiency 30.1 ACADS ETFA ETFDH FLAD1 SLC52A1
4 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.6
5 sarcosinemia 11.4
6 diastolic heart failure 11.3
7 dental anomalies and short stature 11.3
8 sandhoff disease 11.1
9 myoclonic-astastic epilepsy 11.1
10 myopathy due to myoadenylate deaminase deficiency 11.1
11 adenosine monophosphate deaminase 1 deficiency 11.1
12 myopathy 10.6
13 muscle disorders 10.4
14 encephalopathy 10.3
15 gm2-gangliosidosis, ab variant 10.3
16 mitochondrial complex iv deficiency 10.2
17 leukodystrophy 10.2
18 sensory peripheral neuropathy 10.2
19 neuropathy 10.2
20 necrotizing autoimmune myopathy 10.2
21 gestational trophoblastic tumor 10.2
22 chanarin-dorfman syndrome 10.2 ETFB ETFDH
23 hereditary spherocytosis 10.1
24 thalassemia 10.1
25 acute pancreatitis 10.1
26 pancreatitis 10.1
27 dengue hemorrhagic fever 10.1
28 l-2-hydroxyglutaric aciduria 10.1
29 2-hydroxyglutaric aciduria 10.1
30 respiratory failure 10.1
31 aging 10.1
32 choriocarcinoma 10.1
33 brown-vialetto-van laere syndrome 10.1 FLAD1 SLC52A1
34 lung cancer susceptibility 3 10.1
35 adenocarcinoma 10.1
36 hypogonadism 10.1
37 trophoblastic neoplasm 10.1
38 osteoporosis 10.0
39 dermatofibrosarcoma protuberans 10.0
40 coenzyme q10 deficiency, primary, 4 10.0 COQ8A COQ9
41 acyl-coa dehydrogenase, medium-chain, deficiency of 9.9 ACADS ACADVL
42 myoglobinuria, recurrent 9.9 ACADVL CPT2
43 alzheimer disease 9.9
44 leukemia, chronic lymphocytic 2 9.9
45 breast cancer 9.9
46 leukemia, chronic lymphocytic 9.9
47 ovarian cancer 9.9
48 small cell cancer of the lung 9.9
49 lung cancer 9.9
50 anxiety 9.9

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



Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency
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Symptoms & Phenotypes for Multiple Acyl-Coa Dehydrogenase Deficiency

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Symptoms via clinical synopsis from OMIM:

57
H E E N T:
macrocephaly
telecanthus
high forehead
congenital cataract
flat nasal bridge
more
G I:
hepatomegaly
vomiting
nausea
fatty infiltration of liver
hepatic periportal necrosis

Respiratory:
respiratory distress
pulmonary hypoplasia

Lab:
glycosuria
generalized aminoaciduria
ethylmalonic aciduria
glutaric aciduria
glutaric acidemia
more
Misc:
sweaty feet odor
stale breath odor
neonatal death frequent

Neuro:
muscular hypotonia
muscle weakness
hypoglycemic coma

Metabolic:
hypoglycemia
neonatal acidosis

Skin:
jaundice

G U:
renal cortical cysts
polycystic kidneys
selective proximal tubular damage
genital defects


Clinical features from OMIM:

231680

Human phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 muscular hypotonia 32 HP:0001252
3 muscle weakness 32 HP:0001324
4 hepatomegaly 32 HP:0002240
5 depressed nasal bridge 32 HP:0005280
6 abnormal facial shape 32 HP:0001999
7 vomiting 32 HP:0002013
8 hypoglycemia 32 HP:0001943
9 respiratory distress 32 HP:0002098
10 hepatic steatosis 32 HP:0001397
11 jaundice 32 HP:0000952
12 abnormality of the pinna 32 HP:0000377
13 telecanthus 32 HP:0000506
14 polycystic kidney dysplasia 32 HP:0000113
15 high forehead 32 HP:0000348
16 wide anterior fontanel 32 HP:0000260
17 abnormality of the genital system 32 HP:0000078
18 pachygyria 32 HP:0001302
19 pulmonary hypoplasia 32 HP:0002089
20 proximal tubulopathy 32 HP:0000114
21 glycosuria 32 HP:0003076
22 gliosis 32 HP:0002171
23 nausea 32 HP:0002018
24 congenital cataract 32 HP:0000519
25 generalized aminoaciduria 32 HP:0002909
26 hypoglycemic coma 32 HP:0001325
27 renal cortical cysts 32 HP:0000803
28 ethylmalonic aciduria 32 HP:0003219
29 hepatic periportal necrosis 32 HP:0002614
30 glutaric aciduria 32 HP:0003150
31 glutaric acidemia 32 HP:0003530
32 defective dehydrogenation of isovaleryl coa and butyryl coa 32 HP:0003490
33 electron transfer flavoprotein-ubiquinone oxidoreductase defect 32 HP:0003647

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 9.26 ACADS CPT2 ETFDH SLC52A1
2 shRNA abundance <= 50% GR00343-S 9.23 ACAD9 ACADS ACADVL COQ8A CPT2 ETFDH
Sources

Drugs & Therapeutics for Multiple Acyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Titanium dioxide Approved Phase 3 13463-67-7
2
Ganciclovir Approved, Investigational Phase 3 82410-32-0 3454
3 Acidophilus Phase 3
4 Ganciclovir triphosphate Phase 3
5
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
6
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
7
Racepinephrine Approved Phase 1 329-65-7 838
8 Autonomic Agents Phase 1,Not Applicable
9 Anesthetics Phase 1
10 Sympathomimetics Phase 1
11 Adrenergic alpha-Agonists Phase 1
12 Adrenergic beta-Agonists Phase 1
13 Mydriatics Phase 1
14 Neurotransmitter Agents Phase 1
15 Anesthetics, Local Phase 1
16 Adrenergic Agonists Phase 1
17 Pharmaceutical Solutions Phase 1,Not Applicable
18 Diuretics, Potassium Sparing Phase 1
19 Peripheral Nervous System Agents Phase 1,Not Applicable
20 Sodium Channel Blockers Phase 1
21 Adrenergic Agents Phase 1
22 Anti-Arrhythmia Agents Phase 1
23 Respiratory System Agents Phase 1
24 Epinephryl borate Phase 1
25 Central Nervous System Depressants Phase 1
26 Anti-Asthmatic Agents Phase 1
27 Vasoconstrictor Agents Phase 1
28 Bronchodilator Agents Phase 1
29
Methimazole Approved 60-56-0 1349907
30
leucovorin Approved Not Applicable 58-05-9 6006 143
31
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
32
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
33
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
34
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
35
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
36
Vitamin D Approved, Nutraceutical, Vet_approved Not Applicable 1406-16-2
37
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
38
Vitamin D3 Approved, Nutraceutical Not Applicable 67-97-0 5280795 6221
39
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
40 Antioxidants
41 Calcium, Dietary Not Applicable
42 Vitamins Not Applicable
43 Vitamin B9 Not Applicable
44 Folate Not Applicable
45 Omega 3 Fatty Acid Not Applicable
46 Calciferol Not Applicable
47 Vitamin B Complex Not Applicable
48 Antineoplastic Agents, Hormonal Not Applicable
49 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
50 Hormone Antagonists Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effects of Interactive Video Game Cycling on Obese Adolescent Health Completed NCT00983970 Phase 4
2 Effect Of Probiotic Lactobacillus Paracasei Lp-33 For The Management Of Rhinitis In People Sensitized To Allergens Completed NCT01096615 Phase 3
3 Safety of Prolonged Administration of Triticum Monococcum in Celiac Disease Completed NCT02220166 Phase 2
4 Dental Anesthesia in Pregnant Women With Rheumatic Heart Disease Completed NCT00482573 Phase 1
5 The Validity, Reliability and Interpretability of Thai-version of Chronic Urticaria Quality of Life Questionnaire Unknown status NCT02285023
6 Dietary Intake in Adults From the GA2LEN Folow-up Survey Completed NCT03251157
7 Chronic Rhinosinusitis in a Danish Population: Evaluation of Causes of Disease, Progress and Treatment Completed NCT01402349
8 Characteristics of Islet β-cell Functions in Chinese Patients With Graves' Disease Completed NCT02376088 Methimazole
9 Multi-country Project on the Role of Diet, Food-related Behavior, and Obesity in the Prevention of Depression Completed NCT02529423 Not Applicable
10 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
11 Longitudinal Assessment of Clinical Course and BIOmarkers in Severe Chronic AIRway Disease Active, not recruiting NCT00555607 Not Applicable prednisolone

Search NIH Clinical Center for Multiple Acyl-Coa Dehydrogenase Deficiency

Cochrane evidence based reviews: multiple acyl coenzyme a dehydrogenase deficiency

Sources

Genetic Tests for Multiple Acyl-Coa Dehydrogenase Deficiency

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Genetic tests related to Multiple Acyl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Glutaric Aciduria, Type 2 29 ETFA ETFB ETFDH
2 Glutaric Acidemia Iia 29
3 Glutaric Acidemia Iib 29
4 Glutaric Acidemia Iic 29
5 Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase Defect 29
Sources

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency

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

41
Kidney, Liver, Brain, Lung, Heart, Thyroid, Bone
Sources

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency

About this section

Articles related to Multiple Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 109)
# Title Authors Year
1
A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. ( 29249369 )
2018
2
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report. ( 29615056 )
2018
3
A novel ETFDH mutation in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 28914566 )
2018
4
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. ( 30271477 )
2018
5
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 30072122 )
2018
6
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy. ( 29336361 )
2018
7
Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. ( 29988809 )
2018
8
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases. ( 30027710 )
2018
9
Multiple Acyl-CoA Dehydrogenase Deficiency in an Infant. ( 30128629 )
2018
10
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. ( 30311138 )
2018
11
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency. ( 30318261 )
2018
12
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. ( 30424791 )
2018
13
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report. ( 30508893 )
2018
14
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report. ( 30557775 )
2018
15
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI. ( 28388738 )
2017
16
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation. ( 28643959 )
2017
17
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency. ( 28685490 )
2017
18
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder. ( 28084266 )
2017
19
miR-181 interacts with signaling adaptor molecule DENN/MADD and enhances TNF-induced cell death. ( 28323882 )
2017
20
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease. ( 27038534 )
2016
21
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency. ( 26830983 )
2016
22
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. ( 26821934 )
2016
23
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. ( 27000805 )
2016
24
Downregulation of miR-522 suppresses proliferation and metastasis of non-small cell lung cancer cells by directly targeting DENN/MADD domain containing 2D. ( 26783084 )
2016
25
The MADD-3 LAMMER Kinase Interacts with a p38 MAP Kinase Pathway to Regulate the Display of the EVA-1 Guidance Receptor in Caenorhabditis elegans. ( 27123983 )
2016
26
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene. ( 25913573 )
2015
27
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. ( 26205240 )
2015
28
Acquired multiple acyl-CoA dehydrogenase deficiency and marked selenium deficiency causing severe rhabdomyolysis in a horse. ( 26538673 )
2015
29
TRAIL suppresses human breast cancer cell migration via MADD/CXCR7. ( 25854358 )
2015
30
MADD-4/Punctin and Neurexin Organize C. elegans GABAergic Postsynapses through Neuroligin. ( 26028574 )
2015
31
Inhibitory Synapses Get Madd for Neuroligin. ( 26087158 )
2015
32
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. ( 24357026 )
2014
33
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. ( 25289702 )
2014
34
IG20/MADD plays a critical role in glucose-induced insulin secretion. ( 24379354 )
2014
35
Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. ( 24951664 )
2014
36
EVA-1 functions as an UNC-40 Co-receptor to enhance attraction to the MADD-4 guidance cue in Caenorhabditis elegans. ( 25122090 )
2014
37
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD. ( 25246622 )
2014
38
[Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency]. ( 25119904 )
2014
39
Some notes on fatal acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in a two-year-old warmblood stallion and European tar spot (Rhytisma acerinum). ( 23323930 )
2013
40
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. ( 23785301 )
2013
41
Down-modulation of expression, or dephosphorylation, of IG20/MADD in tumor necrosis factor-related apoptosis-inducing ligand-resistant thyroid cancer cells makes them susceptible to treatment with this ligand. ( 22998497 )
2013
42
LIN-12/Notch signaling instructs postsynaptic muscle arm development by regulating UNC-40/DCC and MADD-2 in Caenorhabditis elegans. ( 23539368 )
2013
43
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. ( 23628458 )
2013
44
MADD/DENN/Rab3GEP functions as a guanine nucleotide exchange factor for Rab27 during granule exocytosis of rat parotid acinar cells. ( 23702376 )
2013
45
Association of the rs7395662 SNP in the MADD-FOLH1 and several environmental factors with serum lipid levels in the Mulao and Han populations. ( 24046529 )
2013
46
Equine multiple acyl-CoA dehydrogenase deficiency (MADD) associated with seasonal pasture myopathy in the midwestern United States. ( 22708588 )
2012
47
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene. ( 23106979 )
2012
48
Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect. ( 22190129 )
2012
49
Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila. ( 22580358 )
2012
50
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD). ( 22664151 )
2012
Sources

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Multiple Acyl-Coa Dehydrogenase Deficiency:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 ETFA p.Gly116Arg VAR_002366 rs119458971
2 ETFA p.Val157Gly VAR_002367 rs119458969
3 ETFA p.Thr266Met VAR_002368 rs119458970
4 ETFB p.Arg164Gln VAR_002369 rs104894677
5 ETFB p.Asp128Asn VAR_025804 rs104894678
6 ETFDH p.Ser82Phe VAR_075440 rs887871605
7 ETFDH p.Ser82Pro VAR_075441
8 ETFDH p.Ala84Thr VAR_075442 rs121964954
9 ETFDH p.His112Tyr VAR_075443
10 ETFDH p.Leu127His VAR_075444 rs121964956
11 ETFDH p.Arg175His VAR_075446 rs121964955
12 ETFDH p.Arg175Leu VAR_075447 rs121964955
13 ETFDH p.Pro456Leu VAR_075455 rs398124152
14 ETFDH p.Pro456Thr VAR_075456
15 ETFDH p.Pro562Leu VAR_075458 rs993314323
16 ETFDH p.Lys590Glu VAR_075459
17 ETFDH p.Gly611Glu VAR_075460 rs761669036

ClinVar genetic disease variations for Multiple Acyl-Coa Dehydrogenase Deficiency:

6 (show top 50) (show all 202)
# Gene Variation Type Significance SNP ID Assembly Location
1 ETFA NM_000126.3(ETFA): c.470T> G (p.Val157Gly) single nucleotide variant Pathogenic rs119458969 GRCh37 Chromosome 15, 76578804: 76578804
2 ETFA NM_000126.3(ETFA): c.470T> G (p.Val157Gly) single nucleotide variant Pathogenic rs119458969 GRCh38 Chromosome 15, 76286463: 76286463
3 ETFA NM_000126.3(ETFA): c.797C> T (p.Thr266Met) single nucleotide variant Pathogenic/Likely pathogenic rs119458970 GRCh37 Chromosome 15, 76566772: 76566772
4 ETFA NM_000126.3(ETFA): c.797C> T (p.Thr266Met) single nucleotide variant Pathogenic/Likely pathogenic rs119458970 GRCh38 Chromosome 15, 76274431: 76274431
5 ETFA NM_000126.3(ETFA): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs119458971 GRCh37 Chromosome 15, 76584777: 76584777
6 ETFA NM_000126.3(ETFA): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs119458971 GRCh38 Chromosome 15, 76292436: 76292436
7 ETFA ETFA, 3-BP DEL, NT808 deletion Pathogenic
8 ETFA ETFA, IVS11DS, 1-BP DEL, +1G deletion Pathogenic
9 ETFDH NM_004453.3(ETFDH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964953 GRCh37 Chromosome 4, 159593610: 159593610
10 ETFDH NM_004453.3(ETFDH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964953 GRCh38 Chromosome 4, 158672458: 158672458
11 ETFDH ETFDH, 1-BP DEL, 36A deletion Pathogenic
12 ETFDH NM_004453.3(ETFDH): c.250G> A (p.Ala84Thr) single nucleotide variant Pathogenic rs121964954 GRCh37 Chromosome 4, 159603421: 159603421
13 ETFDH NM_004453.3(ETFDH): c.250G> A (p.Ala84Thr) single nucleotide variant Pathogenic rs121964954 GRCh38 Chromosome 4, 158682269: 158682269
14 ETFDH NM_004453.3(ETFDH): c.524G> T (p.Arg175Leu) single nucleotide variant Pathogenic rs121964955 GRCh37 Chromosome 4, 159606289: 159606289
15 ETFDH NM_004453.3(ETFDH): c.524G> T (p.Arg175Leu) single nucleotide variant Pathogenic rs121964955 GRCh38 Chromosome 4, 158685137: 158685137
16 ETFDH NM_004453.3(ETFDH): c.380T> A (p.Leu127His) single nucleotide variant Pathogenic rs121964956 GRCh37 Chromosome 4, 159603551: 159603551
17 ETFDH NM_004453.3(ETFDH): c.380T> A (p.Leu127His) single nucleotide variant Pathogenic rs121964956 GRCh38 Chromosome 4, 158682399: 158682399
18 ETFB NM_001985.2(ETFB): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs104894677 GRCh37 Chromosome 19, 51850260: 51850260
19 ETFB NM_001985.2(ETFB): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs104894677 GRCh38 Chromosome 19, 51347006: 51347006
20 ETFB ETFB, 1-EX DEL, IVSDS, +1, G-C deletion Pathogenic
21 ETFB NM_001985.2(ETFB): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs104894678 GRCh37 Chromosome 19, 51853639: 51853639
22 ETFB NM_001985.2(ETFB): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs104894678 GRCh38 Chromosome 19, 51350385: 51350385
23 ETFDH NM_004453.3(ETFDH): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs121964955 GRCh37 Chromosome 4, 159606289: 159606289
24 ETFDH NM_004453.3(ETFDH): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs121964955 GRCh38 Chromosome 4, 158685137: 158685137
25 ETFDH NM_004453.3(ETFDH): c.1130T> C (p.Leu377Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387907170 GRCh37 Chromosome 4, 159624588: 159624588
26 ETFDH NM_004453.3(ETFDH): c.1130T> C (p.Leu377Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387907170 GRCh38 Chromosome 4, 158703436: 158703436
27 ETFDH NM_004453.3(ETFDH): c.1448C> T (p.Pro483Leu) single nucleotide variant Likely pathogenic rs377656387 GRCh37 Chromosome 4, 159627503: 159627503
28 ETFDH NM_004453.3(ETFDH): c.1448C> T (p.Pro483Leu) single nucleotide variant Likely pathogenic rs377656387 GRCh38 Chromosome 4, 158706351: 158706351
29 ETFA NM_000126.3(ETFA): c.39+12C> G single nucleotide variant Benign rs62027051 GRCh37 Chromosome 15, 76603679: 76603679
30 ETFA NM_000126.3(ETFA): c.39+12C> G single nucleotide variant Benign rs62027051 GRCh38 Chromosome 15, 76311338: 76311338
31 ETFA NM_000126.3(ETFA): c.512C> T (p.Thr171Ile) single nucleotide variant Benign/Likely benign rs1801591 GRCh37 Chromosome 15, 76578762: 76578762
32 ETFA NM_000126.3(ETFA): c.512C> T (p.Thr171Ile) single nucleotide variant Benign/Likely benign rs1801591 GRCh38 Chromosome 15, 76286421: 76286421
33 ETFDH NM_004453.3(ETFDH): c.1234G> T (p.Glu412Ter) single nucleotide variant Pathogenic rs398124151 GRCh37 Chromosome 4, 159624692: 159624692
34 ETFDH NM_004453.3(ETFDH): c.1234G> T (p.Glu412Ter) single nucleotide variant Pathogenic rs398124151 GRCh38 Chromosome 4, 158703540: 158703540
35 ETFDH NM_004453.3(ETFDH): c.1367C> T (p.Pro456Leu) single nucleotide variant Pathogenic rs398124152 GRCh37 Chromosome 4, 159627422: 159627422
36 ETFDH NM_004453.3(ETFDH): c.1367C> T (p.Pro456Leu) single nucleotide variant Pathogenic rs398124152 GRCh38 Chromosome 4, 158706270: 158706270
37 ETFDH NM_004453.3(ETFDH): c.1823delG (p.Gly608Valfs) deletion Pathogenic rs398124153 GRCh37 Chromosome 4, 159629648: 159629648
38 ETFDH NM_004453.3(ETFDH): c.1823delG (p.Gly608Valfs) deletion Pathogenic rs398124153 GRCh38 Chromosome 4, 158708496: 158708496
39 ETFDH NM_004453.3(ETFDH): c.92C> T (p.Thr31Ile) single nucleotide variant Benign rs11559290 GRCh37 Chromosome 4, 159601676: 159601676
40 ETFDH NM_004453.3(ETFDH): c.92C> T (p.Thr31Ile) single nucleotide variant Benign rs11559290 GRCh38 Chromosome 4, 158680524: 158680524
41 ETFB NM_001985.2(ETFB): c.58-212A> C single nucleotide variant Benign/Likely benign rs143144671 GRCh38 Chromosome 19, 51354520: 51354520
42 ETFB NM_001985.2(ETFB): c.58-212A> C single nucleotide variant Benign/Likely benign rs143144671 GRCh37 Chromosome 19, 51857774: 51857774
43 ETFDH NM_004453.3(ETFDH): c.1533T> C (p.Asp511=) single nucleotide variant Benign/Likely benign rs77484245 GRCh37 Chromosome 4, 159627845: 159627845
44 ETFDH NM_004453.3(ETFDH): c.1533T> C (p.Asp511=) single nucleotide variant Benign/Likely benign rs77484245 GRCh38 Chromosome 4, 158706693: 158706693
45 ETFDH NM_004453.3(ETFDH): c.1690+15C> T single nucleotide variant Benign/Likely benign rs11931339 GRCh37 Chromosome 4, 159628017: 159628017
46 ETFDH NM_004453.3(ETFDH): c.1690+15C> T single nucleotide variant Benign/Likely benign rs11931339 GRCh38 Chromosome 4, 158706865: 158706865
47 ETFA NM_000126.3(ETFA): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727503918 GRCh37 Chromosome 15, 76603728: 76603728
48 ETFA NM_000126.3(ETFA): c.2T> C (p.Met1Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs727503918 GRCh38 Chromosome 15, 76311387: 76311387
49 ETFDH NM_004453.3(ETFDH): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance rs537038850 GRCh37 Chromosome 4, 159601663: 159601663
50 ETFDH NM_004453.3(ETFDH): c.79C> T (p.Pro27Ser) single nucleotide variant Uncertain significance rs537038850 GRCh38 Chromosome 4, 158680511: 158680511
Sources

Expression for Multiple Acyl-Coa Dehydrogenase Deficiency

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

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

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.4 ACAD9 ACADS ACADVL COQ6 COQ9 CPT2
2
Fatty acid metabolism 37
Show member pathways
 11.4 ACADS ACADVL CPT2
3
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.06 ACADS ACADVL CPT2
4
Ubiquinol biosynthesis 66
Show member pathways
 10.29 COQ6 COQ9 PDSS1 PDSS2
Sources

GO Terms for Multiple Acyl-Coa Dehydrogenase Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.7 ACAD9 ACADVL COQ4 COQ6 COQ9 CPT2
2 mitochondrial matrix GO:0005759 9.56 ACADS ACADVL ETFA ETFB ETFDH FLAD1
3 mitochondrial membrane GO:0031966 9.54 ACAD9 ACADVL ETFDH
4 mitochondrion GO:0005739 9.47 ACAD9 ACADS ACADVL COQ4 COQ6 COQ8A
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.43 COQ4 COQ6 COQ8A
6 transferase complex GO:1990234 9.32 PDSS1 PDSS2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.7 ACAD9 ACADS ACADVL COQ6 ETFA ETFB
2 fatty acid metabolic process GO:0006631 9.63 ACADS ACADVL CPT2
3 electron transport chain GO:0022900 9.58 ETFA ETFB ETFDH
4 isoprenoid biosynthetic process GO:0008299 9.43 PDSS1 PDSS2
5 fatty acid beta-oxidation GO:0006635 9.43 ACADS ACADVL CPT2
6 riboflavin metabolic process GO:0006771 9.37 FLAD1 SLC52A1
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.35 ACADS ACADVL ETFA ETFB ETFDH
8 very long-chain fatty acid catabolic process GO:0042760 9.32 ACAD9 ACADVL
9 ubiquinone biosynthetic process GO:0006744 9.1 COQ4 COQ6 COQ8A COQ9 PDSS1 PDSS2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.85 ACAD9 ACADS ACADVL COQ6 ETFA ETFDH
2 electron transfer activity GO:0009055 9.63 ETFA ETFB ETFDH
3 fatty-acyl-CoA binding GO:0000062 9.48 ACAD9 ACADVL
4 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.43 ACAD9 ACADVL
5 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.4 ACAD9 ACADVL
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.33 ACAD9 ACADS ACADVL
7 trans-hexaprenyltranstransferase activity GO:0000010 9.32 PDSS1 PDSS2
8 trans-octaprenyltranstransferase activity GO:0050347 9.26 PDSS1 PDSS2
9 acyl-CoA dehydrogenase activity GO:0003995 9.13 ACAD9 ACADS ACADVL
10 flavin adenine dinucleotide binding GO:0050660 9.1 ACAD9 ACADS ACADVL COQ6 ETFA ETFDH
Sources

Sources for Multiple Acyl-Coa Dehydrogenase Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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