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MCADD
MCID: MDM001
MIFTS: 41

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD) malady

Metabolic category
1 symptom, 2 genes, 1 tissue, 28 related diseases, clinical trials, genetic tests.

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Medium-chain acyl-coenzyme a dehydrogenase (mcad) deficiency is an inherited metabolic condition 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 mcad deficiency have inadequate levels of an enzyme required for the step that metabolizes a group of fats called medium-chain fatty acids. mutations in the acadm gene cause mcad deficiency. last updated: 2/4/2011

MalaCards: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to reye syndrome and cystic fibrosis. 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 is Metabolism. The compounds acetyl-l-carnitine and bamhi have been mentioned in the context of this disorder. Affiliated tissues include liver.

Genetics Home Reference:21 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).

Description from OMIM:47 201450

GeneReviews summary for mcad

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

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Metabolic
ICD10: 26


Characteristics (Orphanet epidemiological data):

49
mcad deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

medium-chain acyl-coenzyme a dehydrogenase deficiency 19 43 20 22 21 61
mcad deficiency 19 43 21 45 49
mcadd 43 21 49
medium chain acyl-coa dehydrogenase deficiency 21 49
acadm deficiency 43 21
mcadh deficiency 43 21
acyl-coa dehydrogenase, medium chain, deficiency of 47
acyl-coa dehydrogenase medium chain deficiency of 43
medium-chain acyl-coa dehydrogenase deficiency 21


External Ids:

OMIM47 201450
MESH via Orphanet36 C536038
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet58 128596003
UMLS via Orphanet62 C0220710

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

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17GeneCards, 18GeneDecks
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Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1reye syndrome30.7OTC, ACADM
2cystic fibrosis30.7ACADM, OTC
3isovaleric acidemia10.5
4beta-ketothiolase deficiency10.5
5sudden infant death syndrome10.5
6congenital adrenal hyperplasia10.5
7protein s deficiency10.5
8protein c deficiency10.5
9acetyl-carnitine deficiency10.5
10ketothiolase deficiency10.5
11hellp syndrome10.5
12duodenal ulcer10.5
13micro syndrome10.5
14very long-chain acyl-coenzyme a dehydrogenase deficiency10.5
15acanthocytosis10.5
16riboflavin deficiency10.5
17acute liver failure10.1
18scot deficiency10.1
19scott syndrome10.1
20fatty acid oxidation disorders10.1
21decr deficiency10.1
22hypoparathyroidism10.0
23hypoglycemia10.0
24multiple carboxylase deficiency10.0ACADM, OTC
25methylmalonic acidemia10.0ACADM, OTC
26phenylketonuria10.0ACADM, OTC
27brain disease10.0ACADM, OTC
28metabolic syndrome x10.0OTC, ACADM

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

Clinical Features for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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47OMIM
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Clinical features from OMIM:

201450

Clinical synopsis from OMIM:

201450

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

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Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drug clinical trials:

Search ClinicalTrials for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

Search CenterWatch for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

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20GeneTests, 22GTR
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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 Deficiency20 ACADM
2 Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency22

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

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33MalaCards
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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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28inGenious Targeting Laboratory
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Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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51PubMed
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Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 43)
idTitleAuthorsYear
1
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. (24403369)
2014
2
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
3
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. (21824573)
2011
4
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (20580581)
2010
5
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. (18608229)
2009
6
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (18256406)
2008
7
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. (18534147)
2008
8
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. (17960024)
2007
9
Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (16677980)
2006
10
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. (15877203)
2005
11
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). (11392180)
2001
12
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (11346377)
2001
13
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
14
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
15
A rapid MRI technique for the assessment of hepatic steatosis in a subject with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (9702659)
1998
16
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)
1998
17
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
18
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)
1995
19
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)
1994
20
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)
1994
21
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. (8134205)
1994
22
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
23
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)
1993
24
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)
1993
25
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)
1993
26
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)
1993
27
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)
1993
28
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)
1993
29
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)
1992
30
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. (1288265)
1992
31
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)
1992
32
Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)
1992
33
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)
1992
34
Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). (1438393)
1992
35
Acyl coenzyme A dehydrogenase deficiency of medium-chain fatty acids in a 9-year-old boy with adymia. A rare mitochondrial cytopathy which may be more common than previously assumed]. (1775146)
1991
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

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

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63UniProtKB/Swiss-Prot
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Genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

63 (show all 19)
id Symbol AA change Variation SNP ID
1ACADMp.Arg53CysVAR_000317
2ACADMp.Met149IleVAR_000319
3ACADMp.Thr193AlaVAR_000320
4ACADMp.Gly195ArgVAR_000321
5ACADMp.Cys244ArgVAR_000322
6ACADMp.Gly267ArgVAR_000323
7ACADMp.Met326ThrVAR_000324
8ACADMp.Lys329GluVAR_000325rs77931234
9ACADMp.Ser336ArgVAR_000326
10ACADMp.Ile375ThrVAR_000327
11ACADMp.Tyr67HisVAR_013698
12ACADMp.Ser245LeuVAR_013699
13ACADMp.Arg281ThrVAR_013700
14ACADMp.Ile78ThrVAR_015954
15ACADMp.Cys116TyrVAR_015955
16ACADMp.Thr121IleVAR_015956
17ACADMp.Arg206LeuVAR_015957
18ACADMp.Gly310ArgVAR_015958
19ACADMp.Tyr352CysVAR_015959

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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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54Reactome, 30KEGG
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Pathways related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Metabolism54
Hide members
9.1ACADM, OTC

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

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45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 2BitterDB
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Compounds related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1acetyl-l-carnitine459.4ACADM, OTC
2bamhi459.4ACADM, OTC
3carnitine459.4ACADM, OTC
4acyl-coa459.4OTC, ACADM
5valproic acid45 50 11 2412.3ACADM, OTC
6chloramphenicol45 2 1111.3ACADM, OTC
7glutamine459.3OTC, ACADM
8fatty acid459.2ACADM, OTC
9lysine459.2ACADM, OTC
10lactate459.1OTC, ACADM
11glutamate459.1ACADM, OTC
12oligonucleotide459.0ACADM, OTC
13arginine458.8ACADM, OTC

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

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16Gene Ontology
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Cellular components related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.1ACADM, OTC

Biological processes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.1ACADM, OTC

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet
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