MCID: MDM001
MIFTS: 42

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories

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

About this section
Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 24GTR, 65UMLS, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

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

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 21 45 22 23 24 65
Mcad Deficiency 21 45 22 23 47 51
Acadm Deficiency 45 23 51
Mcadd 45 23 51
Medium Chain Acyl-Coa Dehydrogenase Deficiency 23 51
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 45 23
 
Mcadh Deficiency 45 23
Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency 51
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 45
Medium Chain Acyl Coa Dehydrogenase Deficiency 45
Medium Chain Acyl Dehydrogenase Deficiency 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
mcad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet51 42
ICD10 via Orphanet28 E71.3
MESH via Orphanet37 C536038
UMLS via Orphanet66 C0220710

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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NIH Rare Diseases:45 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 reye syndrome and sudden infant death syndrome. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain), and among its related pathways are PPAR signaling pathway and Propanoate metabolism. Affiliated tissues include liver, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Genetics Home Reference:23 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 summary for mcad

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

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1reye syndrome10.7
2sudden infant death syndrome10.6
3cystic fibrosis10.6
4isovaleric acidemia10.6
5congenital adrenal hyperplasia10.6
6ketothiolase deficiency10.6
7encephalopathy10.6
8vlcad deficiency10.5
9hellp syndrome10.5
10duodenal ulcer10.5
11duodenitis10.5
12acyl-coa dehydrogenase, medium chain, deficiency of10.3
13acute liver failure10.2
14hepatitis10.2
15urea cycle disorder10.2
16cerebritis10.2
17nutritional deficiency disease10.2
18fatty acid oxidation disorders10.2
19hypoparathyroidism10.1
20hypoglycemia10.1
21acyl-coa dehydrogenase, short-chain, deficiency of10.1ACADM, ACADS
22was-related disorders10.1ACADM, ACADVL
23carnitine deficiency, systemic primary10.0ACADM, ACADVL
24dyskeratosis congenita, autosomal recessive 110.0ACADM, ACADS
25phenylketonuria10.0ACADM, BTD
26muscle tissue disease9.9ACADM, BTD
27aceruloplasminemia9.9ACADM, ACADS, ACADVL
28senile degeneration of brain9.9ACADM, HADHA
29orofacial cleft9.9ACADM, ACADS, BTD
30bruck syndrome9.9ACADL, ACADVL
31biotinidase deficiency9.9ACADM, ACADVL, BTD
32propionicacidemia9.8ACADL, ACADM
33aryepiglottic fold cancer9.8ACADL, ACADM, ACADVL
343-hydroxyacyl-coa dehydrogenase deficiency9.8ACADM, ACADVL, HADHA
35galactosemia9.7ACADM, BTD, HADHA
36long qt syndrome 69.6ACADL, ACADM, ACADVL, BTD
37maple syrup urine disease, type ii9.4ACADM, ACADS, ACADVL, BTD, HADHA
38fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.3ACADL, ACADM, ACADS, ACADVL, HADHA
39microphthalmia/anophthalmia/coloboma spectrum9.1ACADL, ACADM, ACADS, ACADVL, BTD, HADHA

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



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

Symptoms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BezafibrateapprovedPhase 21141859-67-039042
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
2
GlycerolexperimentalPhase 2, Phase 117656-81-5753
Synonyms:
1,2,3-Trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerine
Glyceritol
Glycerol
 
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3carnitineNutraceuticalPhase 2138
44-phenylbutyric acidPhase 148
5
Heparinapproved, investigational6729005-49-6772, 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
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
6Insulin, Globin Zinc4069
7calcium heparin672
8insulin4069
9pyruvateNutraceutical27

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)Active, not recruitingNCT01886378Phase 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) MutationRecruitingNCT01881984Phase 1
7Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
8Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
9Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyNot yet recruitingNCT02635269

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

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

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

id Genetic test Affiliating Genes
1 Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency22 ACADM
2 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency24

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

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

33
Liver

Animal Models for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.0ACADL, ACADS, BTD, HADHA
2MP:00053707.8ACADL, ACADM, ACADS, ACADVL, HADHA
3MP:00053697.7ACADM, ACADS, ACADVL, BTD, HADHA
4MP:00053767.1ACADL, ACADM, ACADS, ACADVL, BTD, HADHA

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

(show all 43)
idTitleAuthorsYear
1
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. (26215884)
2015
2
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (26404458)
2015
3
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. (24799540)
2014
4
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. (25503862)
2014
5
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. (24403369)
2014
6
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
7
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. (21824573)
2011
8
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (20580581)
2010
9
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. (18608229)
2009
10
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (18256406)
2008
11
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. (18534147)
2008
12
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. (17960024)
2007
13
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). (11392180)
2001
14
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (11346377)
2001
15
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. (11229423)
2001
16
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
17
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
18
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)
1998
19
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
20
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)
1995
21
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)
1994
22
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)
1994
23
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. (8134205)
1994
24
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
25
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)
1993
26
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)
1993
27
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)
1993
28
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)
1993
29
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)
1993
30
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)
1993
31
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)
1992
32
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. (1288265)
1992
33
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)
1992
34
Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)
1992
35
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)
1992
36
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. (2046713)
1991
37
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
38
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
39
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
40
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3575262)
1987
41
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3822638)
1987
42
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (3786030)
1986
43
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

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

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1ACADMNM_000016.5(ACADM): c.387+1delGdeletionLikely pathogenicrs786204424GRCh38Chr 1, 75733629: 75733629
2ACADMNM_000016.5(ACADM): c.850-2A> Gsingle nucleotide variantLikely pathogenicrs761317029GRCh38Chr 1, 75750449: 75750449
3ACADMNM_000016.5(ACADM): c.244dupT (p.Trp82Leufs)duplicationLikely pathogenic, Pathogenicrs786204566GRCh37Chr 1, 76198565: 76198565
4ACADMNM_000016.5(ACADM): c.1045C> T (p.Arg349Ter)single nucleotide variantLikely pathogenicrs148207467GRCh38Chr 1, 75761221: 75761221
5ACADMNM_000016.5(ACADM): c.977T> C (p.Met326Thr)single nucleotide variantLikely pathogenicrs786204631GRCh38Chr 1, 75761153: 75761153
6ACADMNM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs)deletionLikely pathogenicrs786204642GRCh38Chr 1, 75734852: 75734855
7ACADMNM_001127328.2(ACADM): c.299-1G> Csingle nucleotide variantPathogenicrs794727694GRCh37Chr 1, 76199212: 76199212
8ACADMNM_001127328.2(ACADM): c.997A> G (p.Lys333Glu)single nucleotide variantPathogenicrs77931234GRCh37Chr 1, 76226846: 76226846
9ACADMNM_001127328.2(ACADM): c.1011_1023dupTAGAATGAGTTAC (p.Gln342Terfs)duplicationLikely pathogenic, Pathogenicrs786204522GRCh37Chr 1, 76226860: 76226872
10ACADMNM_000016.5(ACADM): c.799G> A (p.Gly267Arg)single nucleotide variantPathogenicrs121434274GRCh37Chr 1, 76215194: 76215194
11ACADMNM_001127328.2(ACADM): c.1136T> C (p.Ile379Thr)single nucleotide variantPathogenicrs121434275GRCh37Chr 1, 76226985: 76226985
12ACADMNM_001127328.2(ACADM): c.742T> C (p.Cys248Arg)single nucleotide variantPathogenicrs121434276GRCh37Chr 1, 76215125: 76215125
13ACADMNM_001127328.2(ACADM): c.459G> A (p.Met153Ile)single nucleotide variantPathogenicrs121434277GRCh37Chr 1, 76200535: 76200535
14ACADMNM_001127328.2(ACADM): c.1114_1117delTTAG (p.Ala373Leufs)deletionPathogenicrs387906297GRCh37Chr 1, 76226963: 76226966
15ACADMNP_000007.1: p.Gly115_Cys116deldeletionPathogenic
16ACADMNM_000016.5(ACADM): c.583G> A (p.Gly195Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121434278GRCh37Chr 1, 76205779: 76205779
17ACADMNM_001127328.2(ACADM): c.589A> G (p.Thr197Ala)single nucleotide variantPathogenicrs121434279GRCh37Chr 1, 76205773: 76205773
18ACADMNM_001127328.2(ACADM): c.854G> C (p.Arg285Thr)single nucleotide variantPathogenicrs121434282GRCh37Chr 1, 76215237: 76215237
19ACADMNM_000016.5(ACADM): c.199T> C (p.Tyr67His)single nucleotide variantPathogenicrs121434280GRCh37Chr 1, 76198409: 76198409
20ACADMNM_001127328.2(ACADM): c.746C> T (p.Ser249Leu)single nucleotide variantPathogenicrs121434281GRCh37Chr 1, 76215129: 76215129
21ACADMNM_000016.5(ACADM): c.362C> T (p.Thr121Ile)single nucleotide variantPathogenicrs121434283GRCh37Chr 1, 76199288: 76199288
22ACADMNM_000016.5(ACADM): c.127G> A (p.Glu43Lys)single nucleotide variantPathogenicrs147559466GRCh37Chr 1, 76198337: 76198337
23ACADMNM_001127328.2(ACADM): c.169C> T (p.Arg57Cys)single nucleotide variantPathogenicrs398123072GRCh37Chr 1, 76198367: 76198367
24ACADMNM_001127328.2(ACADM): c.228+2T> Gsingle nucleotide variantPathogenicrs398123073GRCh37Chr 1, 76198428: 76198428
25ACADMNM_000016.5(ACADM): c.233T> C (p.Ile78Thr)single nucleotide variantPathogenicrs398123074GRCh37Chr 1, 76198554: 76198554
26ACADMNM_000016.5(ACADM): c.616C> T (p.Arg206Cys)single nucleotide variantPathogenicrs373715782GRCh37Chr 1, 76211507: 76211507
27ACADMNM_001127328.2(ACADM): c.629G> A (p.Arg210His)single nucleotide variantPathogenicrs200724875GRCh37Chr 1, 76211508: 76211508

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

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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

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Pathways related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4ACADL, ACADM
29.2ACADM, HADHA
3
beta-Alanine metabolism (KEGG)
Show member pathways
9.2ACADM, HADHA
4
Show member pathways
9.2ACADM, HADHA
5
Show member pathways
9.2ACADS, HADHA
6
Show member pathways
9.0ACADL, HADHA
7
Show member pathways
8.8ACADM, ACADS, HADHA
8
Show member pathways
8.8ACADM, ACADS, HADHA
98.7ACADM, ACADVL, HADHA
10
Show member pathways
7.6ACADL, ACADM, ACADS, ACADVL, HADHA
11
Show member pathways
7.6ACADL, ACADM, ACADS, ACADVL, HADHA
12
Show member pathways
7.6ACADL, ACADM, ACADS, ACADVL, HADHA
13
Show member pathways
7.6ACADL, ACADM, ACADS, ACADVL, HADHA
14
Show member pathways
7.1ACADL, ACADM, ACADS, ACADVL, BTD, HADHA

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

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Cellular components related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.3ACADVL, HADHA
2mitochondrial matrixGO:00057597.9ACADL, ACADM, ACADS, ACADVL, BTD
3mitochondrionGO:00057397.3ACADL, ACADM, ACADS, ACADVL, HADHA

Biological processes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1response to starvationGO:004259410.1ACADM, ACADS
2response to glucocorticoidGO:005138410.1ACADM, ACADS
3negative regulation of fatty acid oxidationGO:004632210.1ACADL, ACADVL
4regulation of cholesterol metabolic processGO:009018110.0ACADL, ACADVL
5carnitine metabolic process, CoA-linkedGO:001925410.0ACADL, ACADM
6negative regulation of fatty acid biosynthetic processGO:00457179.9ACADL, ACADVL
7temperature homeostasisGO:00016599.9ACADL, ACADVL
8protein homotetramerizationGO:00512899.2ACADL, ACADM, ACADS
9fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.2ACADL, ACADM, ACADS, ACADVL
10lipid homeostasisGO:00550889.1ACADL, ACADM, ACADS, ACADVL
11fatty acid beta-oxidationGO:00066358.2ACADL, ACADM, ACADS, ACADVL, HADHA
12cellular lipid metabolic processGO:00442558.1ACADL, ACADM, ACADS, ACADVL, HADHA
13oxidation-reduction processGO:00551147.6ACADL, ACADM, ACADS, ACADVL, HADHA
14small molecule metabolic processGO:00442817.2ACADL, ACADM, ACADS, ACADVL, BTD, HADHA
15metabolic processGO:00081526.8ACADL, ACADM, ACADS, ACADVL, BTD, HADHA

Molecular functions related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1long-chain-acyl-CoA dehydrogenase activityGO:00044669.9ACADL, ACADVL
2oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.3ACADL, ACADM, ACADVL
3acyl-CoA dehydrogenase activityGO:00039958.9ACADL, ACADM, ACADS, ACADVL
4oxidoreductase activity, acting on the CH-CH group of donorsGO:00166278.7ACADL, ACADM, ACADS, ACADVL
5flavin adenine dinucleotide bindingGO:00506608.5ACADL, ACADM, ACADS, ACADVL
6electron carrier activityGO:00090558.5ACADL, ACADM, ACADS, ACADVL
7fatty-acyl-CoA bindingGO:00000627.8ACADL, ACADM, ACADS, ACADVL, HADHA

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet