MADD
MCID: MLT118
MIFTS: 68

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 56 12 24 52 25 58 73 73 73 29 6 15
Madd 56 12 24 52 25 58 73
Glutaric Acidemia Iia 56 29 13 6 71
Ethylmalonic-Adipicaciduria 56 52 25 73
Glutaric Acidemia Iib 56 29 6 71
Ema 56 52 25 73
Glutaric Acidemia Type 2 12 52 58
Glutaric Acidemia Iic 56 29 6
Ga Ii 56 25 54
Multiple Acyl Coenzyme a Dehydrogenase Deficiency 43 71
Electron Transfer Flavoprotein Deficiency 12 25
Glutaric Acidemia Type Ii 52 25
Glutaric Aciduria Type 2 12 58
Glutaric Acidemia Ii 56 24
Glutaric Aciduria Ii 56 24
Glutaric Aciduria 2 52 71
Etfdh Deficiency 25 73
Etfa Deficiency 25 73
Etfb Deficiency 25 73
Mad Deficiency 12 58
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency 12
Electron Transfer Flavoprotein Dehydrogenase Deficiency 24
Multiple Fad Dehydrogenase Deficiency 25
Ethylmalonic-Adipicaciduria; Ema 56
Ethylmalonic Adipic Aciduria 74
Glutaric Acidemia Ii; Ga2 56
Glutaric Acidemia, Type 2 25
Glutaric Aciduria, Type 2 25
Glutaric Aciduria Iia 71
Glutaric Aciduria Iib 71
Glutaric Aciduria Iic 71
Glutaric Aciduria 2a 73
Glutaricaciduria Iia 73
Glutaric Aciduria 2b 73
Glutaricaciduria Iib 73
Glutaric Aciduria 2c 73
Glutaricaciduria Iic 73
Glutaricaciduria Ii 74
Glutaric Acidemia 2 52
Gaiia 73
Gaiib 73
Gaiic 73
Ga 2 52
Ga2a 73
Ga2b 73
Ga2c 73
Ga2 56
Mad 25

Characteristics:

Orphanet epidemiological data:

58
multiple acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
multiple acyl-coa dehydrogenase deficiency:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Multiple Acyl-Coa Dehydrogenase Deficiency

OMIM : 56 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 muscular hypotonia and elevated serum creatine kinase

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 : 52 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 : 73 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 : 74 Organic acidemia, is a term used to classify a group of metabolic disorders which disrupt normal amino... more...

GeneReviews: NBK558236

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 383)
# Related Disease Score Top Affiliating Genes
1 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 34.8 FLAD1 ETFDH ETFB ETFA
2 multiple acyl-coa dehydrogenase deficiency, mild type 34.7 SLC25A32 FLAD1 ETFDH ETFB ETFA
3 muscular lipidosis 32.1 ETFDH CHKA ACADS
4 acyl-coa dehydrogenase deficiency 31.6 SLC25A32 SLC22A5 HADHA FLAD1 ETFDH ETFB
5 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 31.5 CPT2 CHKA ACADVL
6 hypoglycemia 31.2 SLC25A20 SLC22A5 HADHA CPT2 ACADVL ACADM
7 myopathy 31.1 SLC25A20 SLC22A5 HADHA FLAD1 ETFDH ETFB
8 reye syndrome 31.0 SLC22A5 PRODH HADHA ETFDH ACADM
9 myoglobinuria 30.9 ETFDH CPT2 ACADVL
10 organic acidemia 30.9 PRODH ACADS ACADM
11 respiratory failure 30.9 SLC52A3 HADHA CPT2 ACADVL
12 brown-vialetto-van laere syndrome 30.7 SLC52A3 SLC52A2 SLC52A1 RFK FLAD1
13 brown-vialetto-van laere syndrome 1 30.7 SLC52A3 SLC52A2
14 fazio-londe disease 30.6 SLC52A3 SLC52A2 SLC52A1 FLAD1 ETFDH ETFB
15 atrial standstill 1 30.6 SLC25A20 SLC22A5 HADHA CPT2 ACADVL
16 mitochondrial metabolism disease 30.4 SLC25A20 PRODH ETFDH CPT2 COQ8A ACADS
17 riboflavin deficiency 30.0 SLC52A3 SLC52A2 SLC52A1 RFK FLAD1 ETFDH
18 transient neonatal multiple acyl-coa dehydrogenase deficiency 12.7
19 epilepsy with myoclonic absences 11.8
20 myopathy due to myoadenylate deaminase deficiency 11.8
21 sarcosinemia 11.6
22 neuropathy, congenital hypomyelinating, 1, autosomal recessive 11.3
23 diastolic heart failure 11.3
24 myoclonic-astastic epilepsy 11.3
25 sandhoff disease 11.3
26 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.2
27 dermatopathia pigmentosa reticularis 11.2
28 birt-hogg-dube syndrome 11.2
29 dental anomalies and short stature 11.2
30 charcot-marie-tooth disease, type 4b3 11.2
31 frontometaphyseal dysplasia 11.2
32 charcot-marie-tooth disease 11.2
33 autosomal recessive disease 10.7
34 metabolic acidosis 10.5
35 encephalopathy 10.5
36 brown-vialetto-van laere syndrome 2 10.5 SLC52A3 SLC52A2
37 madras motor neuron disease 10.5 SLC52A3 SLC52A2 SLC52A1
38 gm2 gangliosidosis 10.5
39 gangliosidosis 10.5
40 myoglobinuria, recurrent 10.5 CPT2 ACADVL
41 methylmalonic acidemia 10.4 PRODH ETFDH ACADS
42 cranial nerve palsy 10.4 SLC52A3 SLC52A2 SLC52A1
43 isovaleric acidemia 10.4 HADHA ACADVL ACADS
44 leukodystrophy 10.4
45 polymyositis 10.4
46 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.4 HADHA ACADVL ACADM
47 3-hydroxyacyl-coa dehydrogenase deficiency 10.4 HADHA ACADVL ACADM
48 multiple carboxylase deficiency 10.4 HADHA ACADS ACADM
49 sudden infant death syndrome 10.4
50 liver cirrhosis 10.4

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:

58 31 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
2 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
4 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
5 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
6 exercise-induced muscle fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0009020
7 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
8 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
9 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
10 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
11 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
12 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
13 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
14 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
15 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
16 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
17 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
18 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
19 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
20 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
21 wide anterior fontanel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000260
22 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
23 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
24 metabolic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001942
25 abnormality of the pinna 58 31 occasional (7.5%) Occasional (29-5%) HP:0000377
26 decreased liver function 58 31 occasional (7.5%) Occasional (29-5%) HP:0001410
27 increased intramyocellular lipid droplets 58 31 occasional (7.5%) Occasional (29-5%) HP:0012240
28 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
29 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
30 decreased plasma carnitine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003234
31 elevated plasma acylcarnitine levels 58 31 occasional (7.5%) Occasional (29-5%) HP:0045045
32 fatigable weakness of neck muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0030199
33 lacticaciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003648
34 ethylmalonic aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003219
35 hepatic periportal necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002614
36 3-methylglutaric aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003344
37 glutaric aciduria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003150
38 seizure 31 occasional (7.5%) HP:0001250
39 increased lactate dehydrogenase level 31 occasional (7.5%) HP:0025435
40 macrocephaly 58 31 very rare (1%) Very rare (<4-1%) HP:0000256
41 arrhythmia 58 31 very rare (1%) Very rare (<4-1%) HP:0011675
42 restrictive ventilatory defect 58 31 very rare (1%) Very rare (<4-1%) HP:0002091
43 scapular winging 58 31 very rare (1%) Very rare (<4-1%) HP:0003691
44 polycystic kidney dysplasia 58 31 very rare (1%) Very rare (<4-1%) HP:0000113
45 abnormality of the genital system 58 31 very rare (1%) Very rare (<4-1%) HP:0000078
46 encephalopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001298
47 poor head control 58 31 very rare (1%) Very rare (<4-1%) HP:0002421
48 cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001638
49 gray matter heterotopia 58 31 very rare (1%) Very rare (<4-1%) HP:0002282
50 inability to walk 58 31 very rare (1%) Very rare (<4-1%) HP:0002540

Symptoms via clinical synopsis from OMIM:

56
G I:
hepatomegaly
vomiting
nausea
hepatic periportal necrosis
fatty infiltration of liver

H E E N T:
macrocephaly
telecanthus
high forehead
flat nasal bridge
facial dysmorphism
more
Skin:
jaundice

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

Neuro:
muscular hypotonia
muscle weakness
hypoglycemic coma

Metabolic:
hypoglycemia
neonatal acidosis

Respiratory:
pulmonary hypoplasia
respiratory distress

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 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.75 FLAD1
2 Decreased viability GR00221-A-1 9.75 COQ8A
3 Decreased viability GR00221-A-2 9.75 CHKA CPT2
4 Decreased viability GR00221-A-3 9.75 COQ8A
5 Decreased viability GR00221-A-4 9.75 CHKA CPT2
6 Decreased viability GR00249-S 9.75 ACADM ETFA PRODH SLC22A5
7 Decreased viability GR00342-S-2 9.75 CHKA
8 Decreased viability GR00381-A-1 9.75 COQ8A PRODH
9 Decreased viability GR00386-A-1 9.75 ACADM ACADS CHKA ETFB HADHA
10 Decreased viability GR00402-S-2 9.75 ACADM ACADS ACADVL CHKA CPT2 ETFB
11 Decreased POU5F1-GFP protein expression GR00184-A-1 9.35 ACADS CPT2 ETFDH HADHA SLC52A1

MGI Mouse Phenotypes related to Multiple Acyl-Coa Dehydrogenase Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 ACADM ACADS ACADVL CHKA COQ8A CPT2
2 liver/biliary system MP:0005370 9.5 ACADM ACADS ACADVL CHKA HADHA SLC22A5
3 mortality/aging MP:0010768 9.44 ACADM ACADS ACADVL CHKA CPT2 ETFDH

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 21)
# 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 Antacids Phase 2
4 Proton Pump Inhibitors Phase 2
5 Anti-Ulcer Agents Phase 2
6 Gastrointestinal Agents Phase 2
7 Respiratory System Agents Phase 1, Phase 2
8 Antioxidants Phase 1, Phase 2
9 Vasodilator Agents Phase 1, Phase 2
10 Protective Agents Phase 1, Phase 2
11 Anti-Asthmatic Agents Phase 1, Phase 2
12 Endothelium-Dependent Relaxing Factors Phase 1, Phase 2
13 Bronchodilator Agents Phase 1, Phase 2
14 Neurotransmitter Agents Phase 1, Phase 2
15
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
16
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
17 Pharmaceutical Solutions
18 Vitamins
19 Hydroxycholecalciferols
20 Calciferol
21 Anesthetics

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 Combination of Video-assisted Thyroid Surgery and Hypnosis as a Complete Minimally Invasive Approach: a Comparative Pilot Study Completed NCT01752283
6 Effect of Infraclavicular Nerve Block Versus General Anaesthesia for Acute Postoperative Pain After Distal Radial Fracture Surgery Completed NCT03048214
7 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Active, not 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 Multiple Acyl-Coa Dehydrogenase Deficiency 29 ETFA ETFB ETFDH
2 Glutaric Acidemia Iia 29
3 Glutaric Acidemia Iic 29
4 Glutaric Acidemia Iib 29

Anatomical Context for Multiple Acyl-Coa Dehydrogenase Deficiency

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

40
Kidney, Liver, Brain, Heart, Thyroid, Skeletal Muscle, Bone

Publications for Multiple Acyl-Coa Dehydrogenase Deficiency

Articles related to Multiple Acyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 462)
# Title Authors PMID Year
1
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. 61 54 24 56 6
12815589 2003
2
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. 24 56 6
1430199 1992
3
High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. 61 6 56
20370797 2010
4
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. 56 6 61
19249206 2009
5
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. 6 56
7912128 1994
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. 6 56
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. 6 56
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. 56 6
7173260 1982
9
Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. 24 56
17977044 2008
10
Glutaric aciduria type II: report on a previously undescribed metabolic disorder. 24 56
1245071 1976
11
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects. 56 61
11486898 2001
12
Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy. 56 61
8771170 1995
13
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. 56 61
1592075 1992
14
Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II. 56 54
2000260 1991
15
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. 61 56
6862997 1983
16
Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. 56 61
7360517 1980
17
Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré syndrome: two cases report. 24 61
30587156 2018
18
Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases. 61 24
30027710 2018
19
Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency. 61 24
28685490 2018
20
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 24 61
28456887 2018
21
Muscle Magnetic Resonance Imaging for the Differentiation of Multiple Acyl-CoA Dehydrogenase Deficiency and Immune-mediated Necrotizing Myopathy. 61 24
29336361 2018
22
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. 61 24
29122468 2017
23
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI. 61 24
28388738 2017
24
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 61 24
27259049 2016
25
Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency. 24 61
26821934 2016
26
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency. 61 24
25556768 2015
27
Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review. 61 24
26205240 2015
28
Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum. 61 24
25827849 2015
29
Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. 24 61
25289702 2015
30
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD. 61 24
25246622 2014
31
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. 24 61
25200064 2014
32
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency. 24 61
24357026 2014
33
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency. 61 24
23727839 2013
34
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation. 61 24
23628458 2013
35
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A. 24 61
21347544 2011
36
Lipid storage myopathy. 24 61
21046290 2011
37
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 61 24
21089064 2011
38
The electron transfer flavoprotein: ubiquinone oxidoreductases. 61 24
20937244 2010
39
In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2. 24 61
20392676 2010
40
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 24 61
19758981 2010
41
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 56
17412732 2007
42
Electron transfer flavoprotein deficiency: functional and molecular aspects. 61 24
16510302 2006
43
Coenzyme Q10 deficiency and isolated myopathy. 56
16434667 2006
44
Decreased fatty acid beta-oxidation in riboflavin-responsive, multiple acylcoenzyme A dehydrogenase-deficient patients is associated with an increase in uncoupling protein-3. 56
14671191 2003
45
Late-onset form of beta-electron transfer flavoprotein deficiency. 61 24
12706375 2003
46
D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). 24 61
12727399 2003
47
Multiple acyl-coenzyme A dehydrogenase deficiency: diagnosis by acyl-carnitine analysis of a 12-year-old newborn screening card. 56
10356148 1999
48
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. 6
9350306 1997
49
Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease. 56
8739959 1996
50
Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency. 56
1754299 1991

Variations for Multiple Acyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 233) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ETFDH NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)SNV Pathogenic 418184 rs200920510 4:159627913-159627913 4:158706761-158706761
2 ETFA NM_000126.4(ETFA):c.493_494GT[1] (p.Ser167fs)short repeat Pathogenic 459956 rs1298299792 15:76578778-76578779 15:76286437-76286438
3 ETFDH NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)SNV Pathogenic 577047 rs773668457 4:159601705-159601705 4:158680553-158680553
4 ETFDH NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)SNV Pathogenic 576973 rs1172887273 4:159593642-159593642 4:158672490-158672490
5 ETFDH NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)SNV Pathogenic 666174 4:159616734-159616734 4:158695582-158695582
6 ETFDH NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)SNV Pathogenic 651444 4:159627429-159627429 4:158706277-158706277
7 ETFA NM_000126.4(ETFA):c.624del (p.Arg209fs)deletion Pathogenic 648977 15:76578018-76578018 15:76285677-76285677
8 ETFA NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)SNV Pathogenic 666198 15:76588066-76588066 15:76295725-76295725
9 FLAD1 NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)SNV Pathogenic 801554 1:154960953-154960953 1:154988477-154988477
10 ETFDH NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)SNV Pathogenic 802100 4:159603466-159603466 4:158682314-158682314
11 ETFDH NM_004453.4(ETFDH):c.684+2T>GSNV Pathogenic 802101 4:159611579-159611579 4:158690427-158690427
12 ETFDH NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)deletion Pathogenic 802104 4:159627959-159627960 4:158706807-158706808
13 ETFA NC_000015.10:g.(?_76311340)_(76311398_?)deldeletion Pathogenic 833247 15:76603681-76603739
14 ETFDH NM_004453.4(ETFDH):c.207del (p.Asp70fs)deletion Pathogenic 857722 4:159603378-159603378 4:158682226-158682226
15 ETFDH NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)SNV Pathogenic 862045 4:159618737-159618737 4:158697585-158697585
16 ETFDH NM_004453.4(ETFDH):c.1169del (p.Gly390fs)deletion Pathogenic 844449 4:159624626-159624626 4:158703474-158703474
17 ETFDH NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)SNV Pathogenic 847402 4:159627505-159627505 4:158706353-158706353
18 ETFDH NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)deletion Pathogenic 834431 4:159627867-159627868 4:158706715-158706716
19 ETFDH NM_004453.4(ETFDH):c.1605_1606AC[1] (p.His536fs)short repeat Pathogenic 846966 4:159627916-159627917 4:158706764-158706765
20 ETFA NM_000126.4(ETFA):c.470T>G (p.Val157Gly)SNV Pathogenic 2593 rs119458969 15:76578804-76578804 15:76286463-76286463
21 ETFA NM_000126.4(ETFA):c.797C>T (p.Thr266Met)SNV Pathogenic 2594 rs119458970 15:76566772-76566772 15:76274431-76274431
22 ETFA NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)SNV Pathogenic 2595 rs119458971 15:76584777-76584777 15:76292436-76292436
23 ETFA ETFA, 3-BP DEL, NT808deletion Pathogenic 2596
24 ETFA ETFA, IVS11DS, 1-BP DEL, +1Gdeletion Pathogenic 2597
25 ETFDH NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)SNV Pathogenic 12026 rs121964953 4:159593610-159593610 4:158672458-158672458
26 ETFDH ETFDH, 1-BP DEL, 36Adeletion Pathogenic 12027
27 ETFDH NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)SNV Pathogenic 12028 rs121964954 4:159603421-159603421 4:158682269-158682269
28 ETFDH NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)SNV Pathogenic 12029 rs121964955 4:159606289-159606289 4:158685137-158685137
29 ETFA NM_000126.4(ETFA):c.625del (p.Arg209fs)deletion Pathogenic 853348 15:76578017-76578017 15:76285676-76285676
30 ETFB NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)SNV Pathogenic 16716 rs104894677 19:51850260-51850260 19:51347006-51347006
31 ETFB ETFB, 1-EX DEL, IVSDS, +1, G-Cdeletion Pathogenic 16717
32 ETFB NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)SNV Pathogenic 16718 rs104894678 19:51853639-51853639 19:51350385-51350385
33 ETFDH NM_004453.4(ETFDH):c.524G>A (p.Arg175His)SNV Pathogenic 31576 rs121964955 4:159606289-159606289 4:158685137-158685137
34 ETFDH NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)SNV Pathogenic 31602 rs377656387 4:159627503-159627503 4:158706351-158706351
35 ETFDH NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)SNV Pathogenic 95071 rs398124151 4:159624692-159624692 4:158703540-158703540
36 ETFDH NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)SNV Pathogenic 95072 rs398124152 4:159627422-159627422 4:158706270-158706270
37 ETFDH NM_004453.4(ETFDH):c.51dup (p.Ala18fs)duplication Pathogenic 195222 rs796051964 4:159601634-159601635 4:158680482-158680483
38 ETFDH NM_004453.4(ETFDH):c.296_297GT[5] (p.Leu102fs)short repeat Pathogenic 203727 rs796051962 4:159603466-159603467 4:158682314-158682315
39 ETFDH NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)SNV Pathogenic 203722 rs558005496 4:159627406-159627406 4:158706254-158706254
40 FLAD1 NM_025207.5(FLAD1):c.324del (p.Arg109fs)deletion Pathogenic 224733 rs876661314 1:154956491-154956491 1:154984015-154984015
41 FLAD1 NM_025207.5(FLAD1):c.397_400TTCT[1] (p.Phe134fs)short repeat Pathogenic 224732 rs876661313 1:154960605-154960608 1:154988129-154988132
42 FLAD1 NM_025207.5(FLAD1):c.498del (p.Ser167fs)deletion Pathogenic 224734 rs876661315 1:154960706-154960706 1:154988230-154988230
43 FLAD1 NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs)indel Pathogenic 224731 rs876661312 1:154960734-154960745 1:154988258-154988269
44 FLAD1 NM_025207.5(FLAD1):c.568_569dup (p.Val191fs)duplication Pathogenic 224728 rs876661310 1:154960775-154960776 1:154988299-154988300
45 FLAD1 NM_025207.5(FLAD1):c.836del (p.Phe279fs)deletion Pathogenic 224730 rs876661311 1:154961043-154961043 1:154988567-154988567
46 FLAD1 NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del)deletion Pathogenic 224727 rs876661309 1:154962932-154962934 1:154990456-154990458
47 FLAD1 NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys)SNV Pathogenic 224729 rs771466122 1:154965222-154965222 1:154992746-154992746
48 ETFDH NM_004453.4(ETFDH):c.405+3A>TSNV Pathogenic/Likely pathogenic 203730 rs796051965 4:159603579-159603579 4:158682427-158682427
49 ETFDH NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)SNV Pathogenic/Likely pathogenic 199094 rs377686388 4:159620167-159620167 4:158699015-158699015
50 ETFDH NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)SNV Pathogenic/Likely pathogenic 265124 rs761669036 4:159629657-159629657 4:158708505-158708505

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

73 (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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 SLC52A3 SLC52A2 SLC52A1 SLC25A32 SLC25A20 RFK
2
Show member pathways
13.03 SLC25A20 ETFDH ETFB ETFA CPT2 ACAD9
3
Show member pathways
12.62 SLC25A20 HADHA CPT2 ACADVL ACADS ACADM
4
Show member pathways
12.34 SLC52A3 SLC52A2 SLC52A1 SLC25A32 RFK FLAD1
5
Show member pathways
12.17 HADHA CPT2 ACADVL ACADS ACADM
6
Show member pathways
11.73 HADHA ACADS ACADM
7
Show member pathways
11.28 HADHA ACADVL ACADS ACADM
8
Show member pathways
11.16 SLC25A20 HADHA CPT2 ACADVL ACADS ACADM
9 10.93 CPT2 ACADM
10 10.5 SLC25A20 CPT2
11
Show member pathways
10.43 HADHA ACADM
12 10.31 RFK FLAD1

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 9.76 SLC25A32 SLC25A20 PRODH HADHA ETFDH CPT2
2 mitochondrial membrane GO:0031966 9.65 SLC25A32 ETFDH ACADVL ACADM ACAD9
3 mitochondrial matrix GO:0005759 9.56 PRODH FLAD1 ETFDH ETFB ETFA ACADVL
4 mitochondrion GO:0005739 9.47 SLC25A32 SLC25A20 PRODH HADHA FLAD1 ETFDH

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 9.91 HADHA CPT2 CHKA ACADVL ACADS ACADM
2 oxidation-reduction process GO:0055114 9.91 PRODH HADHA ETFDH ETFB ETFA ACADVL
3 fatty acid metabolic process GO:0006631 9.77 HADHA CPT2 ACADVL ACADS ACADM
4 electron transport chain GO:0022900 9.67 ETFDH ETFB ETFA
5 respiratory electron transport chain GO:0022904 9.58 ETFDH ETFB ETFA
6 fatty acid beta-oxidation GO:0006635 9.55 HADHA CPT2 ACADVL ACADS ACADM
7 riboflavin transport GO:0032218 9.5 SLC52A3 SLC52A2 SLC52A1
8 carnitine shuttle GO:0006853 9.48 SLC25A20 CPT2
9 medium-chain fatty acid metabolic process GO:0051791 9.46 ACADM ACAD9
10 riboflavin metabolic process GO:0006771 9.35 SLC52A3 SLC52A2 SLC52A1 RFK FLAD1
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 9.92 PRODH HADHA ETFDH ETFA ACADVL ACADS
2 electron transfer activity GO:0009055 9.65 ETFDH ETFB ETFA
3 fatty-acyl-CoA binding GO:0000062 9.54 HADHA ACADVL ACAD9
4 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.46 ACADVL ACAD9
5 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADVL ACADS ACADM ACAD9
6 medium-chain-acyl-CoA dehydrogenase activity GO:0070991 9.43 ACADM ACAD9
7 riboflavin transmembrane transporter activity GO:0032217 9.43 SLC52A3 SLC52A2 SLC52A1
8 very-long-chain-acyl-CoA dehydrogenase activity GO:0017099 9.4 ACADVL ACAD9
9 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACADVL ACADS ACADM ACAD9
10 flavin adenine dinucleotide binding GO:0050660 9.1 ETFDH ETFA ACADVL ACADS ACADM ACAD9

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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