MCADD
MCID: MDM001
MIFTS: 50

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

Metabolic diseases category

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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:46 201450

GeneReviews summary for mcad

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

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Characteristics (Orphanet epidemiological data):

48
mcad deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

medium-chain acyl-coenzyme a dehydrogenase deficiency 19 42 20 22 21 60
mcad deficiency 19 42 21 44 48
acadm deficiency 42 21 48
mcadd 42 21 48
medium chain acyl-coa dehydrogenase deficiency 21 48
mcadh deficiency 42 21
carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency 48
acyl-coa dehydrogenase, medium chain, deficiency of 46
acyl-coa dehydrogenase medium chain deficiency of 42
medium-chain acyl-coa dehydrogenase deficiency 21


External Ids:

OMIM46 201450
MESH via Orphanet35 C536038
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet57 128596003
UMLS via Orphanet61 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 21)
idRelated DiseaseScoreTop Affiliating Genes
1reye syndrome30.7OTC, ACADM
2cystic fibrosis30.7ACADM, OTC
3methylmalonic acidemia30.7ACADM, OTC
4isovaleric acidemia10.5
5beta-ketothiolase deficiency10.5
6sudden infant death syndrome10.5
7congenital adrenal hyperplasia10.5
8hellp syndrome10.5
9duodenal ulcer10.5
10duodenitis10.5
11very long-chain acyl-coenzyme a dehydrogenase deficiency10.5
12acute liver failure10.1
13cerebritis10.1
14hepatitis a10.1
15hepatitis10.1
16hypoparathyroidism10.0
17hypoglycemia10.0
18multiple carboxylase deficiency10.0ACADM, OTC
19phenylketonuria10.0ACADM, OTC
20brain disease10.0ACADM, OTC
21metabolic 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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46OMIM
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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, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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32MalaCards
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MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

32
Liver

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

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Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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50PubMed
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Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 44)
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
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. (11229423)
2001
14
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)
2000
15
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
16
A rapid MRI technique for the assessment of hepatic steatosis in a subject with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (9702659)
1998
17
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)
1998
18
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
19
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)
1995
20
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)
1994
21
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)
1994
22
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. (8134205)
1994
23
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
24
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)
1993
25
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)
1993
26
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)
1993
27
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)
1993
28
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)
1993
29
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)
1993
30
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)
1992
31
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. (1288265)
1992
32
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)
1992
33
Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)
1992
34
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)
1992
35
Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). (1438393)
1992
36
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
37
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. (2046713)
1991
38
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
39
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
40
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
41
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3575262)
1987
42
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3822638)
1987
43
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (3786030)
1986
44
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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62UniProtKB/Swiss-Prot
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Genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

62 (show all 19)
id Symbol AA change Variation ID 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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53Reactome, 29KEGG
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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

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44Novoseek, 49PharmGKB, 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-carnitine449.4ACADM, OTC
2bamhi449.4ACADM, OTC
3carnitine449.4ACADM, OTC
4acyl-coa449.4OTC, ACADM
5valproic acid44 49 11 2412.3ACADM, OTC
6chloramphenicol44 2 1111.3ACADM, OTC
7glutamine449.3OTC, ACADM
8fatty acid449.2ACADM, OTC
9lysine449.2ACADM, OTC
10lactate449.1OTC, ACADM
11glutamate449.1ACADM, OTC
12oligonucleotide449.0ACADM, OTC
13arginine448.8ACADM, 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
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet