MCID: ACY006
MIFTS: 43

Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

Categories: Genetic diseases, Metabolic diseases, Rare diseases

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

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

Name: Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of 54 13
Medium Chain Acyl-Coa Dehydrogenase Deficiency 12 56 14
Mcad Deficiency 56 71 52
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 56 71
Acadm Deficiency 56 71
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 69
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 56
Acyl-Coa Dehydrogenase Medium-Chain Deficiency 71
Medium Chain Acyl Dehydrogenase Deficiency 69
Mcadh Deficiency 71
Acadmd 71
Mcadd 56

Characteristics:

Orphanet epidemiological data:

56
medium chain acyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
most common disorder of fatty acid oxidation (1/13,000 births)
clinical presentation varies from asymptomatic to fulminant course
onset precipitated by fasting or illness


HPO:

32
acyl-coa dehydrogenase, medium chain, deficiency of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

OMIM : 54
Inherited deficiency of medium-chain acyl-CoA dehydrogenase is characterized by intolerance to prolonged fasting, recurrent episodes of hypoglycemic coma with medium-chain dicarboxylic aciduria, impaired ketogenesis, and low plasma and tissue carnitine levels. The disorder may be severe, and even fatal, in young patients (Matsubara et al., 1986). (201450)

MalaCards based summary : Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of, also known as medium chain acyl-coa dehydrogenase deficiency, is related to medium-chain acyl-coenzyme a dehydrogenase deficiency and warburg micro syndrome, and has symptoms including hepatomegaly, seizures and lethargy. An important gene associated with Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of is ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are homeostasis/metabolism and liver/biliary system

UniProtKB/Swiss-Prot : 71 Acyl-CoA dehydrogenase medium-chain deficiency: An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.

Disease Ontology : 12 A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting.

Related Diseases for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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



Diseases related to Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
seizures
lethargy
coma
cerebral edema
more
Abdomen- Gastroin testinal:
vomiting

Laboratory- Abnormalities:
mildly elevated blood ammonia
increased liver enzymes
medium chain dicarboxylic aciduria
decreased plasma carnitine
acylglycinuria
more
Abdomen- Liver:
hepatomegaly
fatty infiltration of liver

Metabolic Features:
absent to trace urine and plasma ketones
mild metabolic acidosis
hypoglycemia


Clinical features from OMIM:

201450

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 seizures 32 HP:0001250
3 lethargy 32 HP:0001254
4 metabolic acidosis 32 HP:0001942
5 global developmental delay 32 HP:0001263
6 vomiting 32 HP:0002013
7 coma 32 HP:0001259
8 cerebral edema 32 HP:0002181
9 hypoglycemia 32 HP:0001943
10 medium chain dicarboxylic aciduria 32 HP:0008309
11 decreased plasma carnitine 32 HP:0003234
12 hepatic steatosis 32 HP:0001397
13 muscular hypotonia 32 HP:0001252
14 hyperglycinuria 32 HP:0003108
15 elevated hepatic transaminases 32 HP:0002910

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


lethargy, seizures, vomiting

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ACAD8 ACADL ACADM ACADS ACADVL BTD
2 liver/biliary system MP:0005370 9.63 ACAD8 ACADL ACADM ACADS ACADVL HADHA
3 muscle MP:0005369 9.35 HADHA ACADM ACADS ACADVL BTD
4 renal/urinary system MP:0005367 9.02 ACAD8 ACADL ACADS BTD HADHA

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

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 2 41859-67-0 39042
2
Glycerol Approved, Investigational Phase 2,Phase 1 56-81-5 753
3 Antimetabolites Phase 2
4 Hypolipidemic Agents Phase 2
5 Lipid Regulating Agents Phase 2
6 carnitine Nutraceutical Phase 2
7 4-phenylbutyric acid Phase 1
8 Protective Agents Phase 1
9
Heparin Approved, Investigational 9005-49-6 772 46507594
10 Anticoagulants
11 calcium heparin
12 Calcium, Dietary
13 Fat Emulsions, Intravenous
14 Fibrinolytic Agents
15 Hypoglycemic Agents
16 insulin
17 Insulin, Globin Zinc
18 Parenteral Nutrition Solutions
19 Pharmaceutical Solutions
20 Soybean oil, phospholipid emulsion
21 Soy Bean Nutraceutical
22 pyruvate Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2 Bezafibrate
2 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
3 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2 Triheptanoin
4 An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2 UX007
5 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2 UX007
6 Use of Ravictiâ„¢ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
7 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
9 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin

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

Genetic Tests for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

Anatomical Context for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

39
Liver

Publications for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

Variations for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

71 (show all 19)
id Symbol AA change Variation ID SNP ID
1 ACADM p.Arg53Cys VAR_000317 rs398123072
2 ACADM p.Met149Ile VAR_000319 rs121434277
3 ACADM p.Thr193Ala VAR_000320 rs121434279
4 ACADM p.Gly195Arg VAR_000321 rs121434278
5 ACADM p.Cys244Arg VAR_000322 rs121434276
6 ACADM p.Gly267Arg VAR_000323 rs121434274
7 ACADM p.Met326Thr VAR_000324 rs786204631
8 ACADM p.Lys329Glu VAR_000325 rs77931234
9 ACADM p.Ser336Arg VAR_000326
10 ACADM p.Ile375Thr VAR_000327 rs121434275
11 ACADM p.Tyr67His VAR_013698 rs121434280
12 ACADM p.Ser245Leu VAR_013699 rs121434281
13 ACADM p.Arg281Thr VAR_013700 rs121434282
14 ACADM p.Ile78Thr VAR_015954 rs398123074
15 ACADM p.Cys116Tyr VAR_015955 rs875989859
16 ACADM p.Thr121Ile VAR_015956 rs121434283
17 ACADM p.Arg206Leu VAR_015957
18 ACADM p.Gly310Arg VAR_015958 rs747268471
19 ACADM p.Tyr352Cys VAR_015959

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

6 (show top 50) (show all 73)
id Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
3 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
4 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
5 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
6 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
7 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
8 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
9 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
10 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
11 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
12 ACADM NM_000016.5(ACADM): c.199T> C (p.Tyr67His) single nucleotide variant Pathogenic rs121434280 GRCh37 Chromosome 1, 76198409: 76198409
13 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
14 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
15 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
16 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
17 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
18 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh37 Chromosome 1, 76199277: 76199277
19 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
20 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
21 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
22 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh38 Chromosome 1, 75750449: 75750449
23 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh38 Chromosome 1, 75761153: 75761153
24 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh38 Chromosome 1, 75761221: 75761221
25 ACADM NM_000016.5(ACADM): c.287-1G> C single nucleotide variant Pathogenic rs794727694 GRCh37 Chromosome 1, 76199212: 76199212
26 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh37 Chromosome 1, 76200514: 76200514
27 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Pathogenic rs201375579 GRCh37 Chromosome 1, 76215192: 76215192
28 ACADM NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG indel Pathogenic rs875989865 GRCh37 Chromosome 1, 76190467: 76190478
29 ACADM NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs) duplication Pathogenic/Likely pathogenic rs875989875 GRCh37 Chromosome 1, 76194162: 76194168
30 ACADM NM_000016.5(ACADM): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs762114560 GRCh37 Chromosome 1, 76198571: 76198571
31 ACADM NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs) deletion Pathogenic rs875989873 GRCh37 Chromosome 1, 76199248: 76199251
32 ACADM NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr) single nucleotide variant Pathogenic rs875989859 GRCh38 Chromosome 1, 75733588: 75733588
33 ACADM NM_000016.5(ACADM): c.395C> G (p.Pro132Arg) single nucleotide variant Likely pathogenic rs875989854 GRCh37 Chromosome 1, 76200483: 76200483
34 ACADM NM_000016.5(ACADM): c.447G> T (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
35 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 GRCh38 Chromosome 1, 75734867: 75734867
36 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 GRCh37 Chromosome 1, 76205664: 76205664
37 ACADM NM_000016.5(ACADM): c.599+1G> A single nucleotide variant Likely pathogenic rs866388216 GRCh38 Chromosome 1, 75740111: 75740111
38 ACADM NM_000016.5(ACADM): c.599+5G> A single nucleotide variant Likely pathogenic rs875989861 GRCh37 Chromosome 1, 76205800: 76205800
39 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Pathogenic/Likely pathogenic rs370523609 GRCh37 Chromosome 1, 76211473: 76211473
40 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 GRCh37 Chromosome 1, 76211500: 76211500
41 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 GRCh37 Chromosome 1, 76215137: 76215137
42 ACADM NM_000016.5(ACADM): c.757G> A (p.Glu253Lys) single nucleotide variant Likely pathogenic rs768884003 GRCh38 Chromosome 1, 75749467: 75749467
43 ACADM NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) deletion Pathogenic/Likely pathogenic rs875989872 GRCh38 Chromosome 1, 75749527: 75749539
44 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 GRCh37 Chromosome 1, 76216167: 76216167
45 ACADM NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs) duplication Pathogenic/Likely pathogenic rs875989864 GRCh38 Chromosome 1, 75750527: 75750527
46 ACADM NM_000016.5(ACADM): c.984delG (p.Met328Ilefs) deletion Pathogenic rs747610156 GRCh37 Chromosome 1, 76226845: 76226845
47 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
48 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 GRCh37 Chromosome 1, 76226873: 76226873
49 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) insertion Pathogenic rs875989874 GRCh38 Chromosome 1, 75761188: 75761189
50 ACADM NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs) duplication Pathogenic rs875989877 GRCh38 Chromosome 1, 75761365: 75761365

Expression for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

Pathways for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 ACAD8 ACADL ACADM ACADS ACADVL BTD
2
Show member pathways
12.49 ACADL ACADM ACADS ACADVL HADHA
3
Show member pathways
11.9 ACADM ACADS HADHA
4
Show member pathways
11.63 ACAD8 ACADM ACADS HADHA
5
Show member pathways
11.52 ACADL ACADM ACADS ACADVL HADHA
6 11.37 ACADL ACADM
7
Show member pathways
11.17 ACADL ACADM ACADS ACADVL HADHA
8 11.14 ACADM ACADVL
9
Show member pathways
11.06 ACADS HADHA
10
Show member pathways
10.99 ACADM HADHA
11 10.94 ACADM HADHA
12
Show member pathways
10.75 ACADL ACADM ACADS ACADVL HADHA

GO Terms for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.43 ACAD8 ACADL ACADM ACADS ACADVL HADHA
2 mitochondrial nucleoid GO:0042645 9.26 ACADVL HADHA
3 mitochondrial matrix GO:0005759 9.1 ACAD8 ACADL ACADM ACADS ACADVL BTD
4 mitochondrial membrane GO:0031966 8.85 ACADL

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 ACAD8 ACADL ACADM ACADS ACADVL HADHA
2 lipid metabolic process GO:0006629 9.8 ACAD8 ACADL ACADM ACADS ACADVL HADHA
3 metabolic process GO:0008152 9.73 ACAD8 ACADL ACADM ACADS ACADVL HADHA
4 fatty acid metabolic process GO:0006631 9.55 ACADL ACADM ACADS ACADVL HADHA
5 response to cold GO:0009409 9.51 ACADM ACADVL
6 temperature homeostasis GO:0001659 9.49 ACADL ACADVL
7 negative regulation of fatty acid biosynthetic process GO:0045717 9.48 ACADL ACADVL
8 regulation of cholesterol metabolic process GO:0090181 9.46 ACADL ACADVL
9 negative regulation of fatty acid oxidation GO:0046322 9.43 ACADL ACADVL
10 carnitine metabolic process, CoA-linked GO:0019254 9.4 ACADL ACADM
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.13 ACADL ACADM ACADVL
12 fatty acid beta-oxidation GO:0006635 9.02 ACADL ACADM ACADS ACADVL HADHA

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 ACAD8 ACADL ACADM ACADS ACADVL HADHA
2 flavin adenine dinucleotide binding GO:0050660 9.55 ACAD8 ACADL ACADM ACADS ACADVL
3 fatty-acyl-CoA binding GO:0000062 9.37 ACADL HADHA
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.35 ACAD8 ACADL ACADM ACADS ACADVL
5 long-chain-acyl-CoA dehydrogenase activity GO:0004466 9.32 ACADL ACADVL
6 acyl-CoA dehydrogenase activity GO:0003995 9.02 ACAD8 ACADL ACADM ACADS ACADVL

Sources for Acyl-Coa Dehydrogenase, Medium Chain, Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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