MCID: MDM001
MIFTS: 30

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Aliases & Descriptions for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 23 48 25 68
Mcad Deficiency 23 48 24 25
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 27
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 48 25
Acadm Deficiency 48 25
Mcadh Deficiency 48 25
 
Mcadd 48 25
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 48
Medium Chain Acyl Coa Dehydrogenase Deficiency 48
Medium Chain Acyl-Coa Dehydrogenase Deficiency 25
Medium Chain Acyl Dehydrogenase Deficiency 68

Classifications:



Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section
NIH Rare Diseases:48 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet. Last updated: 7/7/2014

MalaCards based summary: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium chain, deficiency of and sudden infant death syndrome, and has symptoms including hepatomegaly, hepatomegaly and lethargy. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain). Affiliated tissues include liver.

Genetics Home Reference:25 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

GeneReviews for NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1acyl-coa dehydrogenase, medium chain, deficiency of11.5
2sudden infant death syndrome10.1
3cystic fibrosis10.1
4isovaleric acidemia10.1
5ketothiolase deficiency10.1
6encephalopathy10.1

Graphical network of diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to medium-chain acyl-coenzyme a dehydrogenase deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


hepatomegaly, lethargy, seizures, vomiting

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 2, Phase 122356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2
BezafibrateapprovedPhase 21441859-67-039042
Synonyms:
2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid
2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid
2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid
2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid
2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid
41859-67-0
AB00052265
AB1004588
AC-6817
AC1L20XS
AC1Q5E4V
AKOS005107743
Azufibrat
Azupharma Brand of Bezafibrate
B3346
B7273_SIGMA
BF-759
BM 15.075
BM 15075
BM-15.075
BM-15075
BM15.075
BPBio1_000589
BRD-K46018455-001-06-0
BRN 4267656
BSPBio_000535
BSPBio_001314
BSPBio_003119
Bayer Brand of Bezafibrate
Befibrat
Befizal
Berlin Chemie Brand of Bezafibrate
Berlin-Chemie Brand of Bezafibrate
Betapharm Brand of Bezafibrate
Beza Lande
Beza Puren
Beza-Lande
Beza-Puren
BezaLande
BezaPuren
Bezabeta
Bezacur
Bezafibrat
Bezafibrat PB
Bezafibrate (JP15/USAN/INN)
Bezafibrate Azupharma Brand
Bezafibrate Bayer Brand
Bezafibrate Berlin-Chemie Brand
Bezafibrate Betapharm Brand
Bezafibrate Cryopharma Brand
Bezafibrate Elfar Brand
Bezafibrate Hennig Brand
Bezafibrate Hexal Brand
Bezafibrate Isis Brand
Bezafibrate Lakeside Brand
Bezafibrate Merckle Brand
Bezafibrate Roche Brand
Bezafibrate Synthelabo Brand
Bezafibrate TAD Brand
Bezafibrate Teva Brand
Bezafibrate [USAN:BAN:INN:JAN]
Bezafibrato
Bezafibrato [INN-Spanish]
Bezafibrato [Spanish]
Bezafibrato [inn-spanish]
Bezafibratum
Bezafibratum [INN-Latin]
Bezafibratum [inn-latin]
Bezafisal
Bezalip
Bezalip Retard
Bezamerck
Bezatol
Bezatol SR
Bezatol SR (TN)
Bezatol sr (tn)
Bio2_000034
Bio2_000514
Boehringer Mannheim Brand of Bezafibrate
C19H20ClNO4
CAS-41859-67-0
CCRIS 9085
CHEBI:47612
 
CHEMBL264374
CID39042
Cedur
Cryopharma Brand of Bezafibrate
D001629
D01366
DB01393
DB08380
Difaterol
DivK1c_000092
EINECS 255-567-9
Elfar Brand of Bezafibrate
Eulitop
HMS1361B16
HMS1569K17
HMS1791B16
HMS1921H16
HMS1989B16
HMS2089F04
HMS2092B12
HMS500E14
Hennig Brand of Bezafibrate
Hexal Brand of Bezafibrate
I06-1311
IDI1_000092
IDI1_033784
Isis Brand of Bezafibrate
KBio1_000092
KBio2_000034
KBio2_001923
KBio2_002602
KBio2_004491
KBio2_005170
KBio2_007059
KBio3_000067
KBio3_000068
KBio3_002619
KBioGR_000034
KBioGR_000669
KBioSS_000034
KBioSS_001923
LO 44
LS-124535
Lakeside Brand of Bezafibrate
Lipox
MLS000028533
MLS001148205
Merckle Brand of Bezafibrate
MolPort-001-738-424
NCGC00016850-01
NCGC00016850-02
NCGC00016850-11
NCGC00023317-03
NCGC00023317-04
NCGC00023317-05
NCGC00023317-06
NCGC00023317-07
NCGC00023317-08
NINDS_000092
PB, Bezafibrat
Prestwick0_000378
Prestwick1_000378
Prestwick2_000378
Prestwick3_000378
Prestwick_724
Reducterol
Regadrin B
Roche Brand of Bezafibrate
SMR000058298
SPBio_000824
SPBio_002456
SPECTRUM1502046
ST51014927
Sklerofibrat
Solibay
Spectrum2_000922
Spectrum3_001500
Spectrum4_000325
Spectrum5_001079
Spectrum5_001967
Spectrum_001443
Synthelabo Brand of Bezafibrate
TAD Brand of Bezafibrate
Teva Brand of Bezafibrate
a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid
bezafibrate
durabezur
3Lipid Regulating AgentsPhase 22702
4Hypolipidemic AgentsPhase 22721
5AntimetabolitesPhase 211774
6carnitineNutraceuticalPhase 2158
7Protective AgentsPhase 17190
84-phenylbutyric acidPhase 148
9
Heparinapproved, investigational8129005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
10Pyruvateapproved, Nutraceutical38
11Insulin, Globin Zinc4523
12Parenteral Nutrition Solutions153
13Pharmaceutical Solutions7793
14Soybean oil, phospholipid emulsion73
15insulin4524
16Calcium, Dietary5525
17Anticoagulants2516
18calcium heparin812
19Fat Emulsions, Intravenous92
20Fibrinolytic Agents2317
21Hypoglycemic Agents5733
22Soy BeanNutraceutical535

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation DefectsCompletedNCT00983788Phase 2
2High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
3Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
4An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)CompletedNCT01886378Phase 2
5Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
6Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) MutationCompletedNCT01881984Phase 1
7Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
8Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
9Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

Search NIH Clinical Center for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency27
2 Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency24 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

36
Liver

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 45)
idTitleAuthorsYear
1
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. (27903579)
2016
2
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. (27477829)
2016
3
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. (26215884)
2015
4
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (26404458)
2015
5
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. (24799540)
2014
6
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. (25503862)
2014
7
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. (24403369)
2014
8
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. (23426616)
2013
9
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. (21824573)
2011
10
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (20580581)
2010
11
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. (18608229)
2009
12
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (18256406)
2008
13
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. (18534147)
2008
14
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. (17960024)
2007
15
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. (11229423)
2001
16
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). (11392180)
2001
17
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (11346377)
2001
18
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
19
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat. (10381140)
1999
20
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)
1998
21
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. (9234867)
1997
22
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)
1995
23
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)
1994
24
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)
1994
25
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. (8134205)
1994
26
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (7981832)
1994
27
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)
1993
28
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)
1993
29
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)
1993
30
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)
1993
31
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)
1993
32
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)
1993
33
Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)
1992
34
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)
1992
35
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. (1288265)
1992
36
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)
1992
37
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)
1992
38
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. (2046713)
1991
39
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine- 304 to glutamate substitution in the mature protein is the single prevalent mutation. (2394825)
1990
40
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. (2391601)
1990
41
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy. (2795349)
1989
42
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3575262)
1987
43
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3822638)
1987
44
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (3786030)
1986
45
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. (3840178)
1985

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Clinvar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

5 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADMNM_000016.5(ACADM): c.244dupT (p.Trp82Leufs)duplicationLikely pathogenic, Pathogenicrs786204566GRCh37Chr 1, 76198565: 76198565
2ACADMNM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs)deletionLikely pathogenic, Pathogenicrs786204642GRCh37Chr 1, 76200537: 76200540
3ACADMNM_000016.5(ACADM): c.928G> A (p.Gly310Arg)SNVPathogenicrs747268471GRCh37Chr 1, 76216214: 76216214
4ACADMNM_000016.5(ACADM): c.287-1G> CSNVPathogenicrs794727694GRCh37Chr 1, 76199212: 76199212
5ACADMNM_000016.5(ACADM): c.443G> A (p.Arg148Lys)SNVLikely pathogenic, Pathogenicrs778906552GRCh37Chr 1, 76200531: 76200531
6ACADMNM_000016.5(ACADM): c.698T> C (p.Ile233Thr)SNVLikely pathogenic, Pathogenicrs770273135GRCh37Chr 1, 76211589: 76211589
7ACADMNM_000016.5(ACADM): c.797A> G (p.Asp266Gly)SNVPathogenicrs201375579GRCh37Chr 1, 76215192: 76215192
8ACADMNM_000016.5(ACADM): c.426delG (p.Lys143Argfs)deletionPathogenicrs777998984GRCh37Chr 1, 76200514: 76200514
9ACADMNM_000016.5(ACADM): c.985A> C (p.Lys329Gln)SNVPathogenicrs77931234GRCh37Chr 1, 76226846: 76226846
10ACADMNM_000016.5(ACADM): c.447G> T (p.Met149Ile)SNVPathogenicrs121434277GRCh38Chr 1, 75734850: 75734850
11ACADMNM_000016.5(ACADM): c.609A> C (p.Leu203Phe)SNVPathogenicrs751829413GRCh37Chr 1, 76211500: 76211500
12ACADMNM_000016.5(ACADM): c.347G> A (p.Cys116Tyr)SNVPathogenicrs875989859GRCh38Chr 1, 75733588: 75733588
13ACADMNM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs)deletionPathogenicrs875989860GRCh38Chr 1, 75762718: 75762719
14ACADMNM_000016.5(ACADM): c.881G> C (p.Arg294Thr)SNVPathogenicrs779759347GRCh37Chr 1, 76216167: 76216167
15ACADMNM_000016.5(ACADM): c.926dupT (p.Gly310Argfs)duplicationLikely pathogenic, Pathogenicrs875989864GRCh37Chr 1, 76216212: 76216212
16ACADMNM_000016.5(ACADM): c.600-18G> ASNVLikely pathogenic, Pathogenicrs370523609GRCh37Chr 1, 76211473: 76211473
17ACADMNM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGGindelPathogenicrs875989865GRCh37Chr 1, 76190467: 76190478
18ACADMNM_000016.5(ACADM): c.1012C> T (p.Gln338Ter)SNVPathogenicrs796051896GRCh37Chr 1, 76226873: 76226873
19ACADMNM_000016.5(ACADM): c.742A> G (p.Arg248Gly)SNVPathogenicrs875989867GRCh37Chr 1, 76215137: 76215137
20ACADMNM_000016.5(ACADM): c.469-1G> ASNVPathogenicrs875989869GRCh37Chr 1, 76205664: 76205664
21ACADMNM_000016.5(ACADM): c.984delG (p.Met328Ilefs)deletionPathogenicrs747610156GRCh37Chr 1, 76226845: 76226845
22ACADMNM_000016.5(ACADM): c.250C> T (p.Leu84Phe)SNVPathogenicrs762114560GRCh37Chr 1, 76198571: 76198571
23ACADMNM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs)deletionLikely pathogenic, Pathogenicrs875989872GRCh38Chr 1, 75749527: 75749539
24ACADMNM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs)deletionPathogenicrs875989873GRCh37Chr 1, 76199248: 76199251
25ACADMNM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs)insertionPathogenicrs875989874GRCh37Chr 1, 76226873: 76226874
26ACADMNM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs)duplicationLikely pathogenic, Pathogenicrs875989875GRCh37Chr 1, 76194162: 76194168
27ACADMNM_000016.5(ACADM): c.464T> C (p.Met155Thr)SNVPathogenicrs875989876GRCh38Chr 1, 75734867: 75734867
28ACADMNM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs)duplicationPathogenicrs875989877GRCh38Chr 1, 75761365: 75761365
29ACADMNM_001127328.2(ACADM): c.997A> G (p.Lys333Glu)SNVPathogenicrs77931234GRCh37Chr 1, 76226846: 76226846
30ACADMNM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs)duplicationLikely pathogenic, Pathogenicrs786204522GRCh37Chr 1, 76226860: 76226872
31ACADMNM_000016.5(ACADM): c.799G> A (p.Gly267Arg)SNVPathogenicrs121434274GRCh37Chr 1, 76215194: 76215194
32ACADMNM_000016.5(ACADM): c.1124T> C (p.Ile375Thr)SNVPathogenicrs121434275GRCh37Chr 1, 76226985: 76226985
33ACADMNM_000016.5(ACADM): c.730T> C (p.Cys244Arg)SNVPathogenicrs121434276GRCh37Chr 1, 76215125: 76215125
34ACADMNM_000016.5(ACADM): c.447G> A (p.Met149Ile)SNVPathogenicrs121434277GRCh37Chr 1, 76200535: 76200535
35ACADMNM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs)deletionPathogenicrs387906297GRCh37Chr 1, 76226963: 76226966
36ACADMNM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del)deletionPathogenicrs864621963GRCh38Chr 1, 75733584: 75733589
37ACADMNM_000016.5(ACADM): c.583G> A (p.Gly195Arg)SNVLikely pathogenic, Pathogenicrs121434278GRCh37Chr 1, 76205779: 76205779
38ACADMNM_000016.5(ACADM): c.577A> G (p.Thr193Ala)SNVPathogenicrs121434279GRCh37Chr 1, 76205773: 76205773
39ACADMNM_000016.5(ACADM): c.842G> C (p.Arg281Thr)SNVPathogenicrs121434282GRCh37Chr 1, 76215237: 76215237
40ACADMNM_000016.5(ACADM): c.199T> C (p.Tyr67His)SNVPathogenicrs121434280GRCh37Chr 1, 76198409: 76198409
41ACADMNM_000016.5(ACADM): c.734C> T (p.Ser245Leu)SNVPathogenicrs121434281GRCh37Chr 1, 76215129: 76215129
42ACADMNM_000016.5(ACADM): c.362C> T (p.Thr121Ile)SNVPathogenicrs121434283GRCh37Chr 1, 76199288: 76199288
43ACADMNM_000016.5(ACADM): c.157C> T (p.Arg53Cys)SNVLikely pathogenic, Pathogenicrs398123072GRCh37Chr 1, 76198367: 76198367
44ACADMNM_000016.5(ACADM): c.216+2T> GSNVPathogenicrs398123073GRCh37Chr 1, 76198428: 76198428
45ACADMNM_000016.5(ACADM): c.233T> C (p.Ile78Thr)SNVPathogenicrs398123074GRCh37Chr 1, 76198554: 76198554
46ACADMNM_000016.5(ACADM): c.616C> T (p.Arg206Cys)SNVLikely pathogenic, Pathogenicrs373715782GRCh37Chr 1, 76211507: 76211507
47ACADMNM_000016.5(ACADM): c.617G> A (p.Arg206His)SNVPathogenicrs200724875GRCh37Chr 1, 76211508: 76211508

Expression for genes affiliated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section
Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for genes affiliated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

GO Terms for genes affiliated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet