MADD
MCID: MLT118
MIFTS: 64

Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)

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

Aliases & Classifications for Multiple Acyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Multiple Acyl-Coa Dehydrogenase Deficiency:

Name: Multiple Acyl-Coa Dehydrogenase Deficiency 57 12 53 25 59 74 74 74 15
Madd 57 12 53 25 59 74
Glutaric Acidemia Iia 57 29 13 6 72
Ethylmalonic-Adipicaciduria 57 53 25 74
Glutaric Acidemia Iib 57 29 6 72
Ema 57 53 25 74
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 72
Electron Transfer Flavoprotein Deficiency 12 25
Glutaric Acidemia Type Ii 53 25
Glutaric Aciduria Type 2 12 59
Glutaric Aciduria 2 53 72
Etfdh Deficiency 25 74
Etfa Deficiency 25 74
Etfb Deficiency 25 74
Mad Deficiency 12 59
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency 12
Multiple Fad Dehydrogenase Deficiency 25
Ethylmalonic-Adipicaciduria; Ema 57
Ethylmalonic Adipic Aciduria 75
Glutaric Acidemia Ii; Ga2 57
Glutaric Acidemia, Type 2 25
Glutaric Aciduria Iia 72
Glutaric Aciduria Iib 72
Glutaric Aciduria Iic 72
Glutaric Acidemia Ii 57
Glutaric Aciduria Ii 57
Glutaric Aciduria 2a 74
Glutaricaciduria Iia 74
Glutaric Aciduria 2b 74
Glutaricaciduria Iib 74
Glutaric Aciduria 2c 74
Glutaricaciduria Iic 74
Glutaricaciduria Ii 75
Glutaric Acidemia 2 53
Gaiia 74
Gaiib 74
Gaiic 74
Ga 2 53
Ga2a 74
Ga2b 74
Ga2c 74
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:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060358
OMIM 57 231680
MeSH 44 D054069
NCIt 50 C84907
SNOMED-CT 68 22886006
ICD10 33 E71.313
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0268596 C2931346
Orphanet 59 ORPHA26791
UMLS 72 C0268596 C1856401 C1856403 more

Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency

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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Omeprazole and Nitric Oxide 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: 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.

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). Glutaric acidemia type II usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses. In the most severe cases of glutaric acidemia type II, affected individuals may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet. Some affected individuals have less severe symptoms that begin later in childhood or in adulthood. In the mildest forms of glutaric acidemia type II, muscle weakness developing in adulthood may be the first sign of the disorder.

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 : 74 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. Glutaric aciduria 2B: 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. Glutaric aciduria 2C: 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 : 75 Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino... more...

Related Diseases for Multiple Acyl-Coa Dehydrogenase Deficiency

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

(show top 50) (show all 349)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.3 FLAD1 ETFDH ETFB ETFA
2 multiple acyl-coa dehydrogenase deficiency, mild type 34.3 FLAD1 ETFDH ETFB ETFA
3 hypoglycemia 30.9 CPT2 ACADVL ACADM
4 myoglobinuria 30.7 CPT2 ACADVL
5 organic acidemia 30.4 ACADS ACADM
6 brown-vialetto-van laere syndrome 29.9 SLC52A3 SLC52A1 FLAD1
7 riboflavin deficiency 29.0 SLC52A3 SLC52A1 FLAD1 ETFDH ETFA ACADS
8 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.7
9 epilepsy with myoclonic absences 11.8
10 sarcosinemia 11.5
11 diastolic heart failure 11.5
12 adenosine monophosphate deaminase 1 deficiency 11.4
13 myoclonic-astastic epilepsy 11.3
14 sandhoff disease 11.3
15 myopathy due to myoadenylate deaminase deficiency 11.3
16 acyl-coa dehydrogenase deficiency 11.2
17 myopathy 10.9
18 muscular lipidosis 10.8
19 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.6
20 autosomal recessive disease 10.6
21 metabolic acidosis 10.5
22 encephalopathy 10.5
23 gm2 gangliosidosis 10.5
24 gangliosidosis 10.5
25 carbonic anhydrase va deficiency, hyperammonemia due to 10.4
26 acyl-coa dehydrogenase, short-chain, deficiency of 10.4 ACADS ACADM
27 sudden infant death syndrome 10.4
28 liver cirrhosis 10.4
29 gm2-gangliosidosis, ab variant 10.4
30 chanarin-dorfman syndrome 10.4 ETFDH ETFB
31 fatty liver disease, nonalcoholic 1 10.3
32 leukodystrophy 10.3
33 reye syndrome 10.3
34 sensory peripheral neuropathy 10.3
35 peripheral nervous system disease 10.3
36 inherited metabolic disorder 10.3
37 neuropathy 10.3
38 polymyositis 10.3
39 dengue hemorrhagic fever 10.3
40 choriocarcinoma 10.3
41 gestational trophoblastic tumor 10.3
42 tay-sachs disease 10.3
43 myoglobinuria, recurrent 10.3 CPT2 ACADVL
44 hereditary spherocytosis 10.3
45 lung cancer susceptibility 3 10.2
46 adenocarcinoma 10.2
47 madras motor neuron disease 10.2 SLC52A3 SLC52A1
48 leukemia, acute myeloid 10.2
49 trophoblastic neoplasm 10.2
50 atrial standstill 1 10.2

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



Diseases related to Multiple Acyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Multiple Acyl-Coa Dehydrogenase Deficiency

Human phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

32 (show all 32)
# 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 abnormality of the genital system 32 HP:0000078
17 wide anterior fontanel 32 HP:0000260
18 pachygyria 32 HP:0001302
19 pulmonary hypoplasia 32 HP:0002089
20 proximal tubulopathy 32 HP:0000114
21 nausea 32 HP:0002018
22 gliosis 32 HP:0002171
23 glycosuria 32 HP:0003076
24 renal cortical cysts 32 HP:0000803
25 hepatic periportal necrosis 32 HP:0002614
26 hypoglycemic coma 32 HP:0001325
27 generalized aminoaciduria 32 HP:0002909
28 glutaric acidemia 32 HP:0003530
29 ethylmalonic aciduria 32 HP:0003219
30 developmental cataract 32 HP:0000519
31 glutaric aciduria 32 HP:0003150
32 electron transfer flavoprotein-ubiquinone oxidoreductase defect 32 HP:0003647

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
hepatic periportal necrosis
fatty infiltration of liver

Respiratory:
respiratory distress
pulmonary hypoplasia

Lab:
glycosuria
generalized aminoaciduria
glutaric acidemia
ethylmalonic aciduria
glutaric aciduria
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

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 8.92 ACADS CPT2 ETFDH SLC52A1

Drugs & Therapeutics for Multiple Acyl-Coa Dehydrogenase Deficiency

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 2 73590-58-6 4594
2
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
3 Gastrointestinal Agents Phase 2
4 Antacids Phase 2
5 Proton Pump Inhibitors Phase 2
6 Anti-Ulcer Agents Phase 2
7 Neurotransmitter Agents Phase 1, Phase 2
8 Respiratory System Agents Phase 1, Phase 2
9 Antioxidants Phase 1, Phase 2
10 Free Radical Scavengers Phase 1, Phase 2
11 Protective Agents Phase 1, Phase 2
12 Anti-Asthmatic Agents Phase 1, Phase 2
13 Endothelium-Dependent Relaxing Factors Phase 1, Phase 2
14 Autonomic Agents Phase 1, Phase 2
15 Vasodilator Agents Phase 1, Phase 2
16 Peripheral Nervous System Agents Phase 1, Phase 2
17 Bronchodilator Agents Phase 1, Phase 2
18 Anti-Infective Agents Phase 2
19 Monoacetyldapsone Phase 2
20
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
21
Calcifediol Approved, Nutraceutical 19356-17-3 6433735 5283731
22 Pharmaceutical Solutions
23 Vitamins
24 Hydroxycholecalciferols
25 Calciferol
26 Trace Elements
27 Micronutrients
28 Nutrients
29 Bone Density Conservation Agents
30 Anesthetics
31 Central Nervous System Depressants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimal Dose and Population Pharmacokinetics of Omeprazole in Neonates With Gastroesophageal Reflux Disease (GERD) Completed NCT01657578 Phase 2 Omeprazole
2 Prevention of Transfusion Related Acute Gut Injury (TRAGI) in Extremely Low Gestational Age Neonates (ELGAN) Neonates Using iNO Recruiting NCT02851472 Phase 1, Phase 2 Inhaled Nitric Oxide;Placebo
3 Examining an Intervention to Reduce Underage DUI and Riding With Impaired Drivers Active, not recruiting NCT03506880 Phase 2
4 Safety and Risk Assessment of Obese Parturient Underwent Cesarean Section(CS) Delivery Under General Anesthesia or Intraspinal Anesthesia Completed NCT03002636
5 Effect of Infraclavicular Nerve Block Versus General Anaesthesia for Acute Postoperative Pain After Distal Radial Fracture Surgery Completed NCT03048214
6 Combination of Video-assisted Thyroid Surgery and Hypnosis as a Complete Minimally Invasive Approach: a Comparative Pilot Study Completed NCT01752283
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
8 Decreased Femoral Bone Length by Fetal Ultrasound in Pregnant Women With Low Serum 25-hydroxyvitamin D: An Odense Child Cohort Study Active, not recruiting NCT02439229
9 Vitamin D and Angiogenic Markers in Odense Child Cohort 1: A Prospective Cohort Study on Their Role in Early Pregnancy Adverse Outcome Active, not recruiting NCT02434900
10 Anesthetic Method and Cerebral Outcomes: A Prospective Randomized Controlled Trial. Not yet recruiting NCT03696719

Search NIH Clinical Center for Multiple Acyl-Coa Dehydrogenase Deficiency

Cochrane evidence based reviews: multiple acyl coenzyme a dehydrogenase deficiency

Genetic Tests for Multiple Acyl-Coa Dehydrogenase Deficiency

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

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency

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

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

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency

Articles related to Multiple Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 419)
# Title Authors PMID Year
1
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 9 38 8 71
12815589 2003
2
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 38 8 71
20370797 2010
3
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 38 8 71
19249206 2009
4
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. 8 71
7912128 1994
5
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. 8 71
1430199 1992
6
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. 8 71
1882842 1991
7
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings. 8 71
7173259 1982
8
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. 8 71
7173260 1982
9
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. 38 8
11486898 2001
10
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. 38 8
8771170 1995
11
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. 38 8
1592075 1992
12
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II. 9 8
2000260 1991
13
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. 38 8
6862997 1983
14
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. 38 8
7360517 1980
15
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. 8
17977044 2008
16
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 8
17412732 2007
17
Coenzyme Q10 deficiency and isolated myopathy. 8
16434667 2006
18
Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3. 8
14671191 2003
19
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card. 8
10356148 1999
20
Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. 71
9350306 1997
21
Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease. 8
8739959 1996
22
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency. 8
1754299 1991
23
A new variant of glutaric aciduria type II: deficiency of beta-subunit of electron transfer flavoprotein. 8
2246866 1990
24
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. 8
2658591 1989
25
Glutaric acidemia type II. Comparison of pathologic features in two infants. 8
3178428 1988
26
Complementation analysis of fatty acid oxidation disorders. 8
3793932 1987
27
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. 8
3722376 1986
28
Glutaric acidemia type II. Phenotypic findings and ultrastructural studies of brain and kidney. 8
3754423 1986
29
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid. 8
6698061 1984
30
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 8
6630517 1983
31
Antenatal diagnosis of glutaricaciduria type II. 8
6133123 1983
32
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. 8
7145508 1982
33
Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder. 8
7199025 1981
34
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II. 8
6158623 1980
35
Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases. 8
500826 1979
36
Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. 8
514320 1979
37
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. 8
1245071 1976
38
DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. 9 38
15662686 2005
39
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. 9 38
15669683 2004
40
Ketone body therapy with D/L-β-hydroxybutyric acid solution in severe MADD. 38
31312603 2019
41
Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. 38
30982706 2019
42
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. 38
31392824 2019
43
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study. 38
31268564 2019
44
Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population. 38
30904546 2019
45
Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 38
31058673 2019
46
MADD silencing enhances anti-tumor activity of TRAIL in anaplastic thyroid cancer. 38
30999276 2019
47
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype. 38
31215835 2019
48
Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency. 38
31331668 2019
49
Post-operative hip centre restoration and migration after impaction bone grafting in revision and complex primary hip arthroplasty. 38
31161240 2019
50
Measuring gene-gene interaction using Kullback-Leibler divergence. 38
31206606 2019

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ETFA NM_000126.4(ETFA): c.493_494GT[1] (p.Ser167fs) short repeat Pathogenic rs1298299792 15:76578778-76578779 15:76286437-76286438
2 ETFA NM_000126.4(ETFA): c.470T> G (p.Val157Gly) single nucleotide variant Pathogenic rs119458969 15:76578804-76578804 15:76286463-76286463
3 ETFA NM_000126.4(ETFA): c.797C> T (p.Thr266Met) single nucleotide variant Pathogenic rs119458970 15:76566772-76566772 15:76274431-76274431
4 ETFA NM_000126.4(ETFA): c.346G> A (p.Gly116Arg) single nucleotide variant Pathogenic rs119458971 15:76584777-76584777 15:76292436-76292436
5 ETFA ETFA, 3-BP DEL, NT808 deletion Pathogenic
6 ETFA ETFA, IVS11DS, 1-BP DEL, +1G deletion Pathogenic
7 ETFDH NM_004453.4(ETFDH): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121964953 4:159593610-159593610 4:158672458-158672458
8 ETFDH ETFDH, 1-BP DEL, 36A deletion Pathogenic
9 ETFDH NM_004453.4(ETFDH): c.250G> A (p.Ala84Thr) single nucleotide variant Pathogenic rs121964954 4:159603421-159603421 4:158682269-158682269
10 ETFDH NM_004453.4(ETFDH): c.524G> T (p.Arg175Leu) single nucleotide variant Pathogenic rs121964955 4:159606289-159606289 4:158685137-158685137
11 ETFDH NM_004453.4(ETFDH): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs121964955 4:159606289-159606289 4:158685137-158685137
12 ETFDH NM_004453.4(ETFDH): c.1448C> T (p.Pro483Leu) single nucleotide variant Pathogenic rs377656387 4:159627503-159627503 4:158706351-158706351
13 ETFDH NM_004453.4(ETFDH): c.51dup (p.Ala18fs) duplication Pathogenic rs796051964 4:159601635-159601635 4:158680483-158680483
14 ETFDH NM_004453.4(ETFDH): c.296_297GT[5] (p.Leu102fs) short repeat Pathogenic rs796051962 4:159603473-159603474 4:158682321-158682322
15 ETFA NM_000126.4(ETFA): c.624del (p.Arg209fs) deletion Pathogenic 15:76578018-76578018 15:76285677-76285677
16 ETFA NM_000126.4(ETFA): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic 15:76588066-76588066 15:76295725-76295725
17 ETFDH NM_004453.4(ETFDH): c.1374C> A (p.Cys458Ter) single nucleotide variant Pathogenic 4:159627429-159627429 4:158706277-158706277
18 ETFDH NM_004453.4(ETFDH): c.770A> G (p.Tyr257Cys) single nucleotide variant Pathogenic 4:159616734-159616734 4:158695582-158695582
19 ETFDH NM_004453.4(ETFDH): c.121C> T (p.Arg41Ter) single nucleotide variant Pathogenic 4:159601705-159601705 4:158680553-158680553
20 FLAD1 NM_025207.5(FLAD1): c.1588C> T (p.Arg530Cys) single nucleotide variant Pathogenic rs771466122 1:154965222-154965222 1:154992746-154992746
21 FLAD1 NM_025207.5(FLAD1): c.1484_1486del (p.Ser495del) deletion Pathogenic rs876661309 1:154962934-154962936 1:154990458-154990460
22 FLAD1 NM_025207.5(FLAD1): c.836del (p.Phe279fs) deletion Pathogenic rs876661311 1:154961044-154961044 1:154988568-154988568
23 FLAD1 NM_025207.5(FLAD1): c.568_569dup (p.Val191fs) duplication Pathogenic rs876661310 1:154960776-154960777 1:154988300-154988301
24 FLAD1 NM_025207.5(FLAD1): c.526_537delinsCA (p.Ala176fs) indel Pathogenic rs876661312 1:154960734-154960745 1:154988258-154988269
25 FLAD1 NM_025207.5(FLAD1): c.498del (p.Ser167fs) deletion Pathogenic rs876661315 1:154960706-154960706 1:154988230-154988230
26 FLAD1 NM_025207.5(FLAD1): c.397_400TTCT[1] (p.Phe134fs) short repeat Pathogenic rs876661313 1:154960609-154960612 1:154988133-154988136
27 FLAD1 NM_025207.5(FLAD1): c.324del (p.Arg109fs) deletion Pathogenic rs876661314 1:154956494-154956494 1:154984018-154984018
28 ETFDH NM_004453.4(ETFDH): c.1367C> T (p.Pro456Leu) single nucleotide variant Pathogenic rs398124152 4:159627422-159627422 4:158706270-158706270
29 ETFDH NM_004453.4(ETFDH): c.1234G> T (p.Glu412Ter) single nucleotide variant Pathogenic rs398124151 4:159624692-159624692 4:158703540-158703540
30 ETFB NM_001985.3(ETFB): c.382G> A (p.Asp128Asn) single nucleotide variant Pathogenic rs104894678 19:51853639-51853639 19:51350385-51350385
31 ETFB ETFB, 1-EX DEL, IVSDS, +1, G-C deletion Pathogenic
32 ETFB NM_001985.3(ETFB): c.491G> A (p.Arg164Gln) single nucleotide variant Pathogenic rs104894677 19:51850260-51850260 19:51347006-51347006
33 ETFDH NM_004453.4(ETFDH): c.1001T> C (p.Leu334Pro) single nucleotide variant Pathogenic/Likely pathogenic rs377686388 4:159620167-159620167 4:158699015-158699015
34 ETFDH NM_004453.4(ETFDH): c.1130T> C (p.Leu377Pro) single nucleotide variant Pathogenic/Likely pathogenic rs387907170 4:159624588-159624588 4:158703436-158703436
35 ETFDH NM_004453.4(ETFDH): c.380T> A (p.Leu127His) single nucleotide variant Pathogenic/Likely pathogenic rs121964956 4:159603551-159603551 4:158682399-158682399
36 ETFDH NM_004453.4(ETFDH): c.1601C> T (p.Pro534Leu) single nucleotide variant Pathogenic/Likely pathogenic rs200920510 4:159627913-159627913 4:158706761-158706761
37 ETFDH NM_004453.4(ETFDH): c.413T> G (p.Leu138Arg) single nucleotide variant Pathogenic/Likely pathogenic rs779896449 4:159605751-159605751 4:158684599-158684599
38 ETFDH NM_004453.4(ETFDH): c.1141G> C (p.Gly381Arg) single nucleotide variant Likely pathogenic rs1466787789 4:159624599-159624599 4:158703447-158703447
39 ETFDH NM_004453.4(ETFDH): c.1325C> T (p.Ser442Leu) single nucleotide variant Likely pathogenic rs1442766122 4:159627380-159627380 4:158706228-158706228
40 ETFDH NM_004453.4(ETFDH): c.1285+1G> A single nucleotide variant Likely pathogenic rs767046886 4:159624744-159624744 4:158703592-158703592
41 ETFDH NM_004453.4(ETFDH): c.1366C> T (p.Pro456Ser) single nucleotide variant Likely pathogenic rs751821289 4:159627421-159627421 4:158706269-158706269
42 ETFDH NM_004453.4(ETFDH): c.389A> T (p.Asp130Val) single nucleotide variant Likely pathogenic 4:159603560-159603560 4:158682408-158682408
43 ETFDH NM_004453.4(ETFDH): c.1211T> C (p.Met404Thr) single nucleotide variant Likely pathogenic 4:159624669-159624669 4:158703517-158703517
44 ETFDH NC_000004.11: g.(?_159601599)_(159620302_?)dup duplication Likely pathogenic 4:159601599-159620302 4:158680447-158699150
45 ETFDH NC_000004.11: g.(?_159601609)_(159620292_?)dup duplication Likely pathogenic 4:159601609-159620292 4:158680457-158699140
46 ETFDH NM_004453.4(ETFDH): c.973-1G> A single nucleotide variant Likely pathogenic 4:159620138-159620138 4:158698986-158698986
47 ETFDH NM_004453.4(ETFDH): c.1773_1774del (p.Thr591_Cys592insTer) deletion Conflicting interpretations of pathogenicity rs767795266 4:159629598-159629599 4:158708446-158708447
48 ETFDH NM_004453.4(ETFDH): c.1590A> G (p.Glu530=) single nucleotide variant Conflicting interpretations of pathogenicity rs143015234 4:159627902-159627902 4:158706750-158706750
49 ETFDH NM_004453.4(ETFDH): c.1531G> A (p.Asp511Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs780768015 4:159627843-159627843 4:158706691-158706691
50 ETFA NM_000126.4(ETFA): c.667C> T (p.Arg223Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs769976586 15:76576164-76576164 15:76283823-76283823

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

74 (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

Expression for Multiple Acyl-Coa Dehydrogenase Deficiency

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

Pathways for Multiple Acyl-Coa Dehydrogenase Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 SLC52A3 SLC52A1 PDSS1 FLAD1 ETFDH ETFB
2
Show member pathways
12.48 CPT2 ACADVL ACADS ACADM
3
Show member pathways
11.25 ACADVL ACADS ACADM
4 11.01 ACADVL ACADM
5
Show member pathways
10.98 CPT2 ACADVL ACADS ACADM
6 10.74 CPT2 ACADM
7
Show member pathways
10.69 PDSS1 COQ9 COQ6

GO Terms for Multiple Acyl-Coa Dehydrogenase Deficiency

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 9.63 ETFDH CPT2 COQ9 COQ6 ACADVL ACAD9
2 mitochondrial membrane GO:0031966 9.56 ETFDH ACADVL ACADM ACAD9
3 mitochondrial matrix GO:0005759 9.56 PDSS1 FLAD1 ETFDH ETFB ETFA ACADVL
4 mitochondrion GO:0005739 9.44 PDSS1 FLAD1 ETFDH ETFB ETFA CPT2
5 extrinsic component of mitochondrial inner membrane GO:0031314 9.32 COQ8A COQ6

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.78 CPT2 ACADVL ACADS ACADM
2 oxidation-reduction process GO:0055114 9.76 ETFDH ETFB ETFA COQ6 ACADVL ACADS
3 fatty acid metabolic process GO:0006631 9.67 CPT2 ACADVL ACADS ACADM
4 electron transport chain GO:0022900 9.63 ETFDH ETFB ETFA
5 fatty acid beta-oxidation GO:0006635 9.62 CPT2 ACADVL ACADS ACADM
6 response to cold GO:0009409 9.49 ACADVL ACADM
7 riboflavin transport GO:0032218 9.43 SLC52A3 SLC52A1
8 riboflavin metabolic process GO:0006771 9.43 SLC52A3 SLC52A1 FLAD1
9 medium-chain fatty acid metabolic process GO:0051791 9.4 ACADM ACAD9
10 ubiquinone biosynthetic process GO:0006744 9.26 PDSS1 COQ9 COQ8A COQ6
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.1 ETFDH ETFB ETFA ACADVL ACADS ACADM

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 9.8 ETFDH ETFA COQ6 ACADVL ACADS ACADM
2 electron transfer activity GO:0009055 9.63 ETFDH ETFB ETFA
3 fatty-acyl-CoA binding GO:0000062 9.48 ACADVL ACAD9
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADVL ACADS ACADM ACAD9
5 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.43 ACADVL ACAD9
6 riboflavin transmembrane transporter activity GO:0032217 9.4 SLC52A3 SLC52A1
7 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.37 ACADVL ACAD9
8 medium-chain-acyl-CoA dehydrogenase activity GO:0070991 9.32 ACADM ACAD9
9 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADVL ACADS ACADM ACAD9
10 flavin adenine dinucleotide binding GO:0050660 9.17 ETFDH ETFA COQ6 ACADVL ACADS ACADM

Sources for Multiple Acyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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