MCADD
MCID: MDM001
MIFTS: 41

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

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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NIH Rare Diseases:42 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 cystic fibrosis, and has symptoms including 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: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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 19 42 20 22 21 62
Mcad Deficiency 19 42 21 44 48
Acadm Deficiency 42 21 48
Mcadd 42 21 48
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 42 21
Medium Chain Acyl-Coa Dehydrogenase Deficiency 21 48
 
Medium Chain Acyl Coa Dehydrogenase Deficiency 42 62
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
Deficiency of Medium-Chain Acyl-Coa Dehydrogenase 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
mcad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 201450
MESH via Orphanet35 C536038
ICD10 via Orphanet26 E71.3
UMLS via Orphanet63 C0220710

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/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1reye syndrome10.7
2cystic fibrosis10.6
3isovaleric acidemia10.6
4beta-ketothiolase deficiency10.6
5congenital adrenal hyperplasia10.6
6sudden infant death syndrome10.6
7ketothiolase deficiency10.6
8duodenal ulcer10.5
9hellp syndrome10.5
10duodenitis10.5
11very long-chain acyl-coenzyme a dehydrogenase deficiency10.5
12acanthocytosis10.5
13acute liver failure10.2
14hepatitis10.2
15cerebritis10.2
16fatty acid oxidation disorders10.2
17hypoglycemia10.1
18hypoparathyroidism10.1

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



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

Symptoms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

201450

Clinical features from OMIM:

201450

HPO human phenotypes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 seizures HP:0001250
3 muscular hypotonia HP:0001252
4 lethargy HP:0001254
5 coma HP:0001259
6 global developmental delay HP:0001263
7 hepatic steatosis HP:0001397
8 metabolic acidosis HP:0001942
9 metabolic acidosis HP:0001942
10 hypoglycemia HP:0001943
11 vomiting HP:0002013
12 cerebral edema HP:0002181
13 hepatomegaly HP:0002240
14 elevated hepatic transaminases HP:0002910
15 hyperglycinuria HP:0003108
16 decreased plasma carnitine HP:0003234
17 medium chain dicarboxylic aciduria HP:0008309

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

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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

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 Deficiency20 ACADM
2 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency22

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:

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

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

64 (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

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

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1ACADMNM_000016.5(ACADM): c.985A> G (p.Lys329Glu)single nucleotide variantPathogenicrs77931234GRCh37Chr 1, 76226846: 76226846
2ACADMACADM, 13-BP DUPduplicationPathogenic
3ACADMNM_000016.5(ACADM): c.799G> A (p.Gly267Arg)single nucleotide variantPathogenicrs121434274GRCh37Chr 1, 76215194: 76215194
4ACADMNM_000016.5(ACADM): c.1124T> C (p.Ile375Thr)single nucleotide variantPathogenicrs121434275GRCh37Chr 1, 76226985: 76226985
5ACADMNM_000016.5(ACADM): c.730T> C (p.Cys244Arg)single nucleotide variantPathogenicrs121434276GRCh37Chr 1, 76215125: 76215125
6ACADMNM_000016.5(ACADM): c.447G> A (p.Met149Ile)single nucleotide variantPathogenicrs121434277GRCh37Chr 1, 76200535: 76200535
7ACADMNM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs)deletionPathogenicrs387906297GRCh37Chr 1, 76226963: 76226966
8ACADMNP_000007.1: p.Gly115_Cys116deldeletionPathogenic
9ACADMNM_000016.5(ACADM): c.583G> A (p.Gly195Arg)single nucleotide variantPathogenicrs121434278GRCh37Chr 1, 76205779: 76205779
10ACADMNM_000016.5(ACADM): c.577A> G (p.Thr193Ala)single nucleotide variantPathogenicrs121434279GRCh37Chr 1, 76205773: 76205773
11ACADMNM_000016.5(ACADM): c.842G> C (p.Arg281Thr)single nucleotide variantPathogenicrs121434282GRCh37Chr 1, 76215237: 76215237
12ACADMNM_000016.5(ACADM): c.199T> C (p.Tyr67His)single nucleotide variantPathogenicrs121434280GRCh37Chr 1, 76198409: 76198409
13ACADMNM_000016.5(ACADM): c.734C> T (p.Ser245Leu)single nucleotide variantPathogenicrs121434281GRCh37Chr 1, 76215129: 76215129
14ACADMNM_000016.5(ACADM): c.362C> T (p.Thr121Ile)single nucleotide variantPathogenicrs121434283GRCh37Chr 1, 76199288: 76199288

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet