Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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²¹Genetics Home Reference, ⁴²NIH Rare Diseases, 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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Classifications:

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

ICD10: ²⁶

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

Disorders of fatty-acid metabolism

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)

id	Related Disease	Score	Top Affiliating Genes
1	reye syndrome	30.7	OTC, ACADM
2	cystic fibrosis	30.7	ACADM, OTC
3	methylmalonic acidemia	30.7	ACADM, OTC
4	isovaleric acidemia	10.5
5	beta-ketothiolase deficiency	10.5
6	sudden infant death syndrome	10.5
7	congenital adrenal hyperplasia	10.5
8	hellp syndrome	10.5
9	duodenal ulcer	10.5
10	duodenitis	10.5
11	very long-chain acyl-coenzyme a dehydrogenase deficiency	10.5
12	acute liver failure	10.1
13	cerebritis	10.1
14	hepatitis a	10.1
15	hepatitis	10.1
16	hypoparathyroidism	10.0
17	hypoglycemia	10.0
18	multiple carboxylase deficiency	10.0	ACADM, OTC
19	phenylketonuria	10.0	ACADM, OTC
20	brain disease	10.0	ACADM, OTC
21	metabolic syndrome x	10.0	OTC, ACADM

Graphical network of the top 20 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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⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ⁶⁰UMLS, ⁴⁰NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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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

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)

id	Title	Authors	Year
1	Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. (24403369)	Kumar G.... Karl T.R.	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)	Madsen K.L.... Vissing J.	2013
3	Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. (21824573)	Das S.... Hashmi M.A.	2011
4	Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (20580581)	Yusupov R.... Levy H.L.	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)	Joy P.... Wilcken B.	2009
6	More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (18256406)	Wilcken B.	2008
7	A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. (18534147)	Cyriac J.... Gupta C.	2008
8	Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. (17960024)	Rice G.... Wolff J.A.	2007
9	Sudden death in a young woman from medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (16677980)	Wilhelm G.W.	2006
10	L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study. (15877203)	Lee P.J.... Chalmers R.A.	2005
11	Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). (11392180)	Rhoades E.... King P.	2001
12	Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (11346377)	Bodman M.... Naviaux R.K.	2001
13	Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. (11229423)	Fletcher J.M.... Pitt J.J.	2001
14	Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. (10755375)	Heil M.... Lehnert W.	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)	Fletcher J.M.... Pitt J.J.	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)	Fishbein M.... Li B.U.	1998
17	High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)	Martinez G.... NuA+ez-Roldan A.	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)	Flath B.... Roscher A.A.	1997
19	Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)	Christodoulou J.... Wilcken B.	1995
20	Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)	Wilcken B.... Silink M.	1994
21	Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)	Iafolla A.K.... Roe C.R.	1994
22	Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. (8134205)	Van Hove J.L.... Roe C.R.	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)	Arakawa H.... Narisawa K.	1994
24	Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)	Bhala A.... Hale D.E.	1993
25	Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)	Tsai M.Y.... Tuchman M.	1993
26	Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)	Rinaldo P.... Leonard J.V.	1993
27	Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)	Arens R.... Ward S.L.	1993
28	Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)	Wilcken B.... Hammond J.	1993
29	Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)	Pagon R.A.... Stephens K.	1993
30	An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)	Marsden D.... Sweetman L.	1992
31	Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. (1288265)	Perper J.A.... Ahdab-Barmada M.	1992
32	A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)	Leung K.C.... Wilcken B.	1992
33	Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)	Bennett M.J.... Hale D.E.	1992
34	Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)	Hegyi T.... Gardner K.	1992
35	Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). (1438393)	Miller M.... Insel R.	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)	Wilken B.... Sigge W.	1991
37	Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. (2046713)	Ding J.H.... Chen Y.T.	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)	Yokota I.... Tanaka K.	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)	Morton D.H.... Kelley R.I.	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)	Schmidt-Sommerfeld E.... Lebenthal E.	1989
41	Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3575262)	Bennett M.J.... Pollitt R.J.	1987
42	Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3822638)	Taubman B.... Kelley R.I.	1987
43	Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (3786030)	Duran M.... Wadman S.K.	1986
44	Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. (3840178)	Amendt B.A.... Rhead W.J.	1985

Genes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc., ⁴⁶OMIM, ⁴⁸Orphanet, ⁶²UniProtKB/Swiss-Prot, ²⁰GeneTests
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Genes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

id	Symbol	Products	Description	Score	Implication
1	ACADM		acyl-CoA dehydrogenase, C-4 to C-12 straight chain	26.46	Molecular basis known ⁴⁶ Causative germline mutation ⁴⁸ Causative variation ⁶² Genetic Tests ²⁰ GeneCards inferred : Publications, Disorders (show sections)
2	OTC		ornithine carbamoyltransferase	16.21	GeneCards inferred : Publications, Disorders (show sections)

Products for genes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	2	2	2
2	LSBio	-	-	2

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
1	ACADM	p.Arg53Cys	VAR_000317
2	ACADM	p.Met149Ile	VAR_000319
3	ACADM	p.Thr193Ala	VAR_000320
4	ACADM	p.Gly195Arg	VAR_000321
5	ACADM	p.Cys244Arg	VAR_000322
6	ACADM	p.Gly267Arg	VAR_000323
7	ACADM	p.Met326Thr	VAR_000324
8	ACADM	p.Lys329Glu	VAR_000325	rs77931234
9	ACADM	p.Ser336Arg	VAR_000326
10	ACADM	p.Ile375Thr	VAR_000327
11	ACADM	p.Tyr67His	VAR_013698
12	ACADM	p.Ser245Leu	VAR_013699
13	ACADM	p.Arg281Thr	VAR_013700
14	ACADM	p.Ile78Thr	VAR_015954
15	ACADM	p.Cys116Tyr	VAR_015955
16	ACADM	p.Thr121Ile	VAR_015956
17	ACADM	p.Arg206Leu	VAR_015957
18	ACADM	p.Gly310Arg	VAR_015958
19	ACADM	p.Tyr352Cys	VAR_015959

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

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Metabolism⁵³ Hide members Metabolic pathways²⁹ Metabolism of lipids and lipoproteins⁵³	9.1	ACADM, OTC

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

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

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	acetyl-l-carnitine⁴⁴	9.4	ACADM, OTC
2	bamhi⁴⁴	9.4	ACADM, OTC
3	carnitine⁴⁴	9.4	ACADM, OTC
4	acyl-coa⁴⁴	9.4	OTC, ACADM
5	valproic acid⁴⁴ ⁴⁹ ¹¹ ²⁴	12.3	ACADM, OTC
6	chloramphenicol⁴⁴ ² ¹¹	11.3	ACADM, OTC
7	glutamine⁴⁴	9.3	OTC, ACADM
8	fatty acid⁴⁴	9.2	ACADM, OTC
9	lysine⁴⁴	9.2	ACADM, OTC
10	lactate⁴⁴	9.1	OTC, ACADM
11	glutamate⁴⁴	9.1	ACADM, OTC
12	oligonucleotide⁴⁴	9.0	ACADM, OTC
13	arginine⁴⁴	8.8	ACADM, 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:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:005759	9.1	ACADM, OTC

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

id	Name	GO ID	Score	Top Affiliating Genes
1	liver development	GO:001889	9.1	ACADM, OTC

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

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MCADD MCID: MDM001 MIFTS: 50	Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD) malady Metabolic diseases category
1 symptom, 2 genes, 1 tissue, 21 related diseases, clinical trials, genetic tests.

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