MCADD
MCID: MDM001
MIFTS: 41

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

Metabolic category

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
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

Sources:
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


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

Sources:
17GeneCards, 18GeneDecks
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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

Sources:
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

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

Sources:
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

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
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

Sources:
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

Sources:
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

Sources:
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
Hide members
9.1ACADM, OTC

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

Sources:
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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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