MCID: MDM001
MIFTS: 27

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Categories: Rare diseases

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

MalaCards integrated aliases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 23 49 28 69
Mcad Deficiency 23 49
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 49
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 49
Medium Chain Acyl Coa Dehydrogenase Deficiency 49
Medium Chain Acyl Dehydrogenase Deficiency 69
Acadm Deficiency 49
Mcadh Deficiency 49
Mcadd 49

Classifications:



External Ids:

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

NIH Rare Diseases : 49 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inheritedmetabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death. Last updated: 8/29/2017

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium-chain, deficiency of and fibrosis of extraocular muscles, congenital, 1, and has symptoms including vomiting, seizures and lethargy. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase Medium Chain). The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver.

GeneReviews: NBK1424

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

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

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, medium-chain, deficiency of 11.9
2 fibrosis of extraocular muscles, congenital, 1 10.2
3 lipoid congenital adrenal hyperplasia 10.2
4 alpha-methylacetoacetic aciduria 10.2
5 cystic fibrosis 10.2
6 isovaleric acidemia 10.2
7 sudden infant death syndrome 10.2
8 encephalopathy 10.2

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 & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


vomiting, seizures, lethargy

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

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

(showing 16, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1 56-81-5 753
2 4-phenylbutyric acid Phase 1
3 Protective Agents Phase 1
4
Heparin Approved, Investigational 9005-49-6 46507594 772
5 calcium heparin
6 insulin
7 Fat Emulsions, Intravenous
8 Fibrinolytic Agents
9 Soybean oil, phospholipid emulsion
10 Parenteral Nutrition Solutions
11 Anticoagulants
12 Hypoglycemic Agents
13 Pharmaceutical Solutions
14 Insulin, Globin Zinc
15 Calcium, Dietary
16 Soy Bean Nutraceutical

Interventional clinical trials:

(showing 3, show less)

# Name Status NCT ID Phase Drugs
1 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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

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

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

# Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 28 ACADM

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

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

38
Liver

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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

(showing 46, show less)
# Title Authors Year
1
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month. ( 28753542 )
2017
2
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. ( 27903579 )
2016
3
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. ( 27477829 )
2016
4
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 26215884 )
2015
5
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. ( 26404458 )
2015
6
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. ( 25503862 )
2014
7
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 24799540 )
2014
8
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. ( 24403369 )
2014
9
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
10
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 21824573 )
2011
11
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. ( 20580581 )
2010
12
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. ( 18608229 )
2009
13
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. ( 18256406 )
2008
14
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. ( 18534147 )
2008
15
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. ( 17960024 )
2007
16
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. ( 11346377 )
2001
17
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. ( 11229423 )
2001
18
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). ( 11392180 )
2001
19
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
20
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
21
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. ( 9667375 )
1998
22
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
23
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. ( 7815228 )
1995
24
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. ( 8134205 )
1994
25
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
26
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. ( 8120710 )
1994
27
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8017963 )
1994
28
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. ( 8432018 )
1993
29
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8419594 )
1993
30
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ( 8496748 )
1993
31
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ( 20301597 )
1993
32
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8215568 )
1993
33
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8463904 )
1993
34
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 1288265 )
1992
35
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. ( 1635678 )
1992
36
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. ( 1447668 )
1992
37
Medium chain acyl-coenzyme A dehydrogenase deficiency. ( 1436730 )
1992
38
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( 1456259 )
1992
39
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. ( 2046713 )
1991
40
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
41
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
42
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
43
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3822638 )
1987
44
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3575262 )
1987
45
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3786030 )
1986
46
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

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

6 (showing 49, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
2 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
3 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
4 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh37 Chromosome 1, 76211507: 76211507
5 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
6 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
7 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
8 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh37 Chromosome 1, 76226906: 76226906
9 ACADM NM_000016.5(ACADM): c.287-1G> C single nucleotide variant Pathogenic rs794727694 GRCh37 Chromosome 1, 76199212: 76199212
10 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
11 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
12 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
13 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
14 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
15 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
16 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
17 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
18 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
19 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
20 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
21 ACADM NM_000016.5(ACADM): c.199T> C (p.Tyr67His) single nucleotide variant Pathogenic rs121434280 GRCh37 Chromosome 1, 76198409: 76198409
22 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
23 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
24 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh37 Chromosome 1, 76200514: 76200514
25 ACADM NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG indel Pathogenic rs875989865 GRCh37 Chromosome 1, 76190467: 76190478
26 ACADM NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs) duplication Pathogenic/Likely pathogenic rs875989875 GRCh37 Chromosome 1, 76194162: 76194168
27 ACADM NM_000016.5(ACADM): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic/Likely pathogenic rs762114560 GRCh37 Chromosome 1, 76198571: 76198571
28 ACADM NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs) deletion Pathogenic rs875989873 GRCh37 Chromosome 1, 76199248: 76199251
29 ACADM NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr) single nucleotide variant Pathogenic rs875989859 GRCh38 Chromosome 1, 75733588: 75733588
30 ACADM NM_000016.5(ACADM): c.447G> T (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
31 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 GRCh38 Chromosome 1, 75734867: 75734867
32 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 GRCh37 Chromosome 1, 76205664: 76205664
33 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Pathogenic/Likely pathogenic rs370523609 GRCh37 Chromosome 1, 76211473: 76211473
34 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 GRCh37 Chromosome 1, 76211500: 76211500
35 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 GRCh37 Chromosome 1, 76215137: 76215137
36 ACADM NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) deletion Pathogenic/Likely pathogenic rs875989872 GRCh38 Chromosome 1, 75749527: 75749539
37 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 GRCh37 Chromosome 1, 76216167: 76216167
38 ACADM NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs) duplication Pathogenic/Likely pathogenic rs875989864 GRCh38 Chromosome 1, 75750527: 75750527
39 ACADM NM_000016.5(ACADM): c.984delG (p.Met328Ilefs) deletion Pathogenic rs747610156 GRCh37 Chromosome 1, 76226845: 76226845
40 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
41 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 GRCh37 Chromosome 1, 76226873: 76226873
42 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) insertion Pathogenic rs875989874 GRCh38 Chromosome 1, 75761188: 75761189
43 ACADM NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs) duplication Pathogenic rs875989877 GRCh38 Chromosome 1, 75761365: 75761365
44 ACADM NM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs) deletion Pathogenic rs875989860 GRCh38 Chromosome 1, 75762718: 75762719
45 ACADM NM_000016.5(ACADM): c.387+1G> A single nucleotide variant Pathogenic rs1057516983 GRCh37 Chromosome 1, 76199314: 76199314
46 ACADM NM_000016.5(ACADM): c.431_434delAGTA (p.Lys144Ilefs) deletion Pathogenic rs1057517356 GRCh37 Chromosome 1, 76200519: 76200522
47 ACADM NM_000016.5(ACADM): c.287-2A> G single nucleotide variant Pathogenic rs1057518677 GRCh37 Chromosome 1, 76199211: 76199211
48 ACADM NM_000016.5(ACADM): c.989_1010del22 (p.Val330Alafs) deletion Pathogenic GRCh37 Chromosome 1, 76226850: 76226871
49 ACADM NM_000016.5(ACADM): c.425delA (p.Lys142Argfs) deletion Pathogenic GRCh37 Chromosome 1, 76200513: 76200513

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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