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

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

Sources:
²¹GeneReviews, ⁴⁵NIH Rare Diseases, ²³Genetics Home Reference, ⁶⁵UMLS, ²²GeneTests, ⁴⁷Novoseek, ⁵¹Orphanet, ²⁴GTR, ²⁸ICD10 via Orphanet, ³⁷MESH via Orphanet, ⁶⁶UMLS via Orphanet
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Aliases & Descriptions for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency ²¹ ⁴⁵ ²³ ⁶⁵

Mcad Deficiency ²¹ ⁴⁵ ²² ²³ ⁴⁷ ⁵¹

Acadm Deficiency ⁴⁵ ²³ ⁵¹

Mcadd ⁴⁵ ²³ ⁵¹

Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency ²² ²⁴

Medium-Chain Acyl-Coa Dehydrogenase Deficiency ⁴⁵ ²³

Medium Chain Acyl-Coa Dehydrogenase Deficiency ²³ ⁵¹

Mcadh Deficiency ⁴⁵ ²³

Carnitine Deficiency Secondary to Medium-Chain Acyl-Coa Dehydrogenase Deficiency ⁵¹

Acyl-Coa Dehydrogenase Medium Chain Deficiency of ⁴⁵

Medium Chain Acyl Coa Dehydrogenase Deficiency ⁴⁵

Medium Chain Acyl Dehydrogenase Deficiency ⁶⁵

Characteristics:

Orphanet epidemiological data:

⁵¹

mcad deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ²⁸

Endocrine, nutritional and metabolic diseases

Metabolic disorders

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

Disorders of fatty-acid metabolism

Orphanet: ⁵¹

Inborn errors of metabolism

External Ids:

Orphanet⁵¹ 42

ICD10 via Orphanet²⁸ E71.3

MESH via Orphanet³⁷ C536038

UMLS via Orphanet⁶⁶ C0220710

UMLS⁶⁵ C0220710, C1979921

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
²³Genetics Home Reference, ⁴⁵NIH Rare Diseases, ²¹GeneReviews, ³³MalaCards
See all MalaCards sources

NIH Rare Diseases:⁴⁵ 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 acyl-coa dehydrogenase, medium chain, deficiency of and sudden infant death syndrome, and has symptoms including vomiting, vomiting and seizures. 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, prostate and t cells.

Genetics Home Reference:²³ 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).

GeneReviews summary for NBK1424

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

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
See all MalaCards sources

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

id	Related Disease	Score
1	acyl-coa dehydrogenase, medium chain, deficiency of	11.6
2	sudden infant death syndrome	10.3
3	cystic fibrosis	10.3
4	isovaleric acidemia	10.3
5	congenital adrenal hyperplasia	10.3
6	ketothiolase deficiency	10.3
7	encephalopathy	10.3
8	hypoparathyroidism	9.9
9	hypoglycemia	9.9

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

Symptoms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
⁶⁵UMLS
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UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

vomiting, seizures, lethargy, hepatomegaly

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

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ⁶⁵UMLS, ⁴³NDF-RT, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
See all MalaCards sources

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

(show all 13)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Bezafibrate

approved

Phase 2

12

41859-67-0

39042

Synonyms:

2-(4-{2-[(4-chlorobenzoyl)amino]ethyl}phenoxy)-2-methylpropanoic acid

2-(P-(2-(P-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid

2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid

2-[4-(2-[4-Chlorobenzamido]ethyl)- phenoxy]-2-methylpropanoic acid

2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]-2-methylpropanoic acid

2-[4-[2-(4-Chlorobenzamido)ethyl]phenoxy]isobutyric Acid

2-[4-[2-[(4-chlorobenzoyl)amino]ethyl]phenoxy]-2-methylpropanoic acid

41859-67-0

AB00052265

AB1004588

AC-6817

AC1L20XS

AC1Q5E4V

AKOS005107743

Azufibrat

Azupharma Brand of Bezafibrate

B3346

B7273_SIGMA

BF-759

BM 15.075

BM 15075

BM-15.075

BM-15075

BM15.075

BPBio1_000589

BRD-K46018455-001-06-0

BRN 4267656

BSPBio_000535

BSPBio_001314

BSPBio_003119

Bayer Brand of Bezafibrate

Befibrat

Befizal

Berlin Chemie Brand of Bezafibrate

Berlin-Chemie Brand of Bezafibrate

Betapharm Brand of Bezafibrate

Beza Lande

Beza Puren

Beza-Lande

Beza-Puren

BezaLande

BezaPuren

Bezabeta

Bezacur

Bezafibrat

Bezafibrat PB

Bezafibrate (JP15/USAN/INN)

Bezafibrate Azupharma Brand

Bezafibrate Bayer Brand

Bezafibrate Berlin-Chemie Brand

Bezafibrate Betapharm Brand

Bezafibrate Cryopharma Brand

Bezafibrate Elfar Brand

Bezafibrate Hennig Brand

Bezafibrate Hexal Brand

Bezafibrate Isis Brand

Bezafibrate Lakeside Brand

Bezafibrate Merckle Brand

Bezafibrate Roche Brand

Bezafibrate Synthelabo Brand

Bezafibrate TAD Brand

Bezafibrate Teva Brand

Bezafibrate [USAN:BAN:INN:JAN]

Bezafibrato

Bezafibrato [INN-Spanish]

Bezafibrato [Spanish]

Bezafibrato [inn-spanish]

Bezafibratum

Bezafibratum [INN-Latin]

Bezafibratum [inn-latin]

Bezafisal

Bezalip

Bezalip Retard

Bezamerck

Bezatol

Bezatol SR

Bezatol SR (TN)

Bezatol sr (tn)

Bio2_000034

Bio2_000514

Boehringer Mannheim Brand of Bezafibrate

C19H20ClNO4

CAS-41859-67-0

CCRIS 9085

CHEBI:47612

CHEMBL264374

CID39042

Cedur

Cryopharma Brand of Bezafibrate

D001629

D01366

DB01393

DB08380

Difaterol

DivK1c_000092

EINECS 255-567-9

Elfar Brand of Bezafibrate

Eulitop

HMS1361B16

HMS1569K17

HMS1791B16

HMS1921H16

HMS1989B16

HMS2089F04

HMS2092B12

HMS500E14

Hennig Brand of Bezafibrate

Hexal Brand of Bezafibrate

I06-1311

IDI1_000092

IDI1_033784

Isis Brand of Bezafibrate

KBio1_000092

KBio2_000034

KBio2_001923

KBio2_002602

KBio2_004491

KBio2_005170

KBio2_007059

KBio3_000067

KBio3_000068

KBio3_002619

KBioGR_000034

KBioGR_000669

KBioSS_000034

KBioSS_001923

LO 44

LS-124535

Lakeside Brand of Bezafibrate

Lipox

MLS000028533

MLS001148205

Merckle Brand of Bezafibrate

MolPort-001-738-424

NCGC00016850-01

NCGC00016850-02

NCGC00016850-11

NCGC00023317-03

NCGC00023317-04

NCGC00023317-05

NCGC00023317-06

NCGC00023317-07

NCGC00023317-08

NINDS_000092

PB, Bezafibrat

Prestwick0_000378

Prestwick1_000378

Prestwick2_000378

Prestwick3_000378

Prestwick_724

Reducterol

Regadrin B

Roche Brand of Bezafibrate

SMR000058298

SPBio_000824

SPBio_002456

SPECTRUM1502046

ST51014927

Sklerofibrat

Solibay

Spectrum2_000922

Spectrum3_001500

Spectrum4_000325

Spectrum5_001079

Spectrum5_001967

Spectrum_001443

Synthelabo Brand of Bezafibrate

TAD Brand of Bezafibrate

Teva Brand of Bezafibrate

a-[4-(4-chlorobenzoylaminoethyl)phenoxy]isobutyric acid

bezafibrate

durabezur

2

Glycerol

experimental

Phase 2, Phase 1

191

56-81-5

753

Synonyms:

1,2,3-Trihydroxypropane

Bulbold

Cristal

E 422

Emery 916

Glyceol Opthalgan

Glycerin

Glycerine

Glyceritol

Glycerol

Glycyl alcohol

Glyrol

Glysanin

IFP

Incorporation factor

Mackstat H 66

Osmoglyn

Pricerine 9091

Propanetriol

RG-S

Trihydroxypropane

Tryhydroxypropane

3

Hypolipidemic Agents

Phase 2

2228

4

Antimetabolites

Phase 2

9454

5

carnitine

Nutraceutical

Phase 2

146

6

Protective Agents

Phase 1

5651

7

4-phenylbutyric acid

Phase 1

48

8

Heparin

approved, investigational

719

9005-49-6

772, 46507594

Synonyms:

101921-26-0

102-94-3

102785-31-9

104521-37-1

11078-24-3

11129-39-8

12656-11-0

2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose

37324-73-5

6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid

9041-08-1

9045-22-1

9075-96-1

913079-23-9

91449-79-5

AC1L19ZN

AC1L1ROY

ALFA 87-120

ALFA 87-163

ALFA 87-198

ALFA 87-81

ALFA 88-247

AR-1E4539

Allocinnamic acid

Ardeparin

Ardeparin sodium

Arteven

Bemiparin

Bemiparin sodium

CID772

CID8784

CY 216

Calciparine

Certoparin

Clexane

Clivarin

Clivarine

Cy 222

D006495

D017984

DB00407

DB01225

Dalteparin

Dalteparin sodium

Depo-Heparin

EINECS 232-681-7

EMT 966

EMT 967

EMT-966

EMT-967

EMT966

EMT967

Enoxaparin

Enoxaparin sodium

Enoxaparine

Eparina

Eparina [DCIT]

FR 860

Fluxum

Fragmin A

Fragmin B

Fragmin IV

Fraxiparin

H 2149

HSDB 3094

Hed-heparin

Hep Flush Kit in plastic container

Hep-Lock

Hep-Lock U/P

Hep-lock

Heparin

Heparin CY 216

Heparin Lock Flush

Heparin Lock Flush in plastic container

Heparin Lock Flush preservative free

Heparin Lock Flush preservative free in plastic container

Heparin Sodium

Heparin natrium

Heparin sodium

Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container

Heparin sodium 1,000 units in dextrose 5% in plastic container

Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container

Heparin sodium 10,000 units in dextrose 5%

Heparin sodium 10,000 units in dextrose 5% in plastic container

Heparin sodium 10,000 units in sodium chloride 0.45%

Heparin sodium 10,000 units in sodium chloride 0.9%

Heparin sodium 12,500 units in dextrose 5%

Heparin sodium 12,500 units in dextrose 5% in plastic container

Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container

Heparin sodium 12,500 units in sodium chloride 0.9%

Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container

Heparin sodium 2,000 units in dextrose 5% in plastic container

Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container

Heparin sodium 20,000 units and dextrose 5% in plastic container

Heparin sodium 20,000 units in dextrose 5% in plastic container

Heparin sodium 25,000 units and dextrose 5% in plastic container

Heparin sodium 25,000 units in dextrose 5%

Heparin sodium 25,000 units in dextrose 5% in plastic container

Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container

Heparin sodium 25,000 units in sodium chloride 0.9%

Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container

Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container

Heparin sodium 5,000 units in dextrose 5% in plastic container

Heparin sodium 5,000 units in sodium chloride 0.45%

Heparin sodium 5,000 units in sodium chloride 0.9%

Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container

Heparin sodium in plastic container

Heparin sodium preservative Free

Heparin sulfate

Heparin sulphate

Heparin, Low Molecular Weight

Heparin, Low-Molecular-Weight

Heparin, sodium salt

Heparina

Heparina [INN-Spanish]

Heparinate

Heparine

Heparine [INN-French]

Heparinic acid

Heparinsodiumsalt

Heparinum

Heparinum [INN-Latin]

Heparinum natricum

Hepathrom

Hepflush-10

Inno-Hep

Innohep

Isocinnamic acid

KB 101

Kabi 2165

LHN 1

LMWH

Lioton 1000

Lipo-hepin

Liquaemin

Liquaemin Lock Flush

Liquaemin Sodium

Liquaemin sodium preservative free

Liquemin

Logiparin

Lovenox

Lovenox HP

Low Molecular Weight Heparin

Low molecular weight heparin

Low molecular weight heparin sodium

Low-Molecular-Weight Heparin

Minolteparin sodium

MolPort-003-760-257

Multiparin

NSC174025

Nadroparin

Nadroparine

Novoheparin

OP 386

OP 622

Octaparin

PK 10,169

PK-10,169

PK-10169

PK10,169

PK10169

Pabyrin

Panheprin

Parnaparin

Parnaparin sodium

Parvoparin

Pularin

Reviparin

Reviparin sodium

Ro 11

Sandoparin

Sodium acid heparin

Sodium heparin

Sodium heparinate

Subeparin

Sublingula

Thromboliquine

Tinzaparin

Tinzaparin sodium

Triofiban

UNII-12M44VTJ7B

UNII-3S182ET3UA

UNII-E47C0NF7LV

UNII-T2410KM04A

UNII-ZZ45AB24CA

Vetren

Vitrum AB

WY 90493RD

alpha-Heparin

cis-.beta.-Carboxystyrene

cis-Cinnamic acid

enoxaparin

heparin

9

Insulin, Globin Zinc

4278

10

calcium heparin

719

11

insulin

4278

12

Pharmaceutical Solutions

7004

13

pyruvate

Nutraceutical

30

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects	Completed	NCT00983788	Phase 2
2	High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders	Completed	NCT01494051	Phase 1, Phase 2
3	Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder	Completed	NCT01379625	Phase 2
4	An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)	Active, not recruiting	NCT01886378	Phase 2
5	Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.	Enrolling by invitation	NCT02214160	Phase 2
6	Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation	Completed	NCT01881984	Phase 1
7	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy	Recruiting	NCT02635269
8	Fatty Acid Oxidation Defects and Insulin Sensitivity	Recruiting	NCT02517307
9	Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage Disease	Available	NCT01461304

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

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

Sources:
²²GeneTests
See all MalaCards sources

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

id	Genetic test	Affiliating Genes
1	Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency²²	ACADM

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

Sources:
³³MalaCards
See all MalaCards sources

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

³³

Liver, Prostate, T cells, B cells, Ovary, Pituitary, Breast

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

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources:
⁵⁴PubMed
See all MalaCards sources

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

(show all 43)

id	Title	Authors	Year
1	Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. (26215884)	Gartner V.... Lee P.R.	2015
2	Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. (26404458)	Bala P.... Morris A.A.	2015
3	Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. (24799540)	Wiles J.R.... Akinbi H.	2014
4	First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. (25503862)	Liang C.... Liu L.	2014
5	Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. (24403369)	Kumar G.... Karl T.R.	2014
6	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
7	Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. (21824573)	Das S.... Hashmi M.A.	2011
8	Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (20580581)	Yusupov R.... Levy H.L.	2010
9	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
10	More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. (18256406)	Wilcken B.	2008
11	A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. (18534147)	Cyriac J.... Gupta C.	2008
12	Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. (17960024)	Rice G.... Wolff J.A.	2007
13	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
14	Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. (11346377)	Bodman M.... Naviaux R.K.	2001
15	Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. (11229423)	Fletcher J.M.... Pitt J.J.	2001
16	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
17	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
18	High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. (9667375)	Martinez G.... NuA+ez-Roldan A.	1998
19	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
20	Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. (7815228)	Christodoulou J.... Wilcken B.	1995
21	Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. (8017963)	Wilcken B.... Silink M.	1994
22	Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. (8120710)	Iafolla A.K.... Roe C.R.	1994
23	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
24	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
25	Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. (8419594)	Bhala A.... Hale D.E.	1993
26	Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. (8432018)	Tsai M.Y.... Tuchman M.	1993
27	Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. (8463904)	Rinaldo P.... Leonard J.V.	1993
28	Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. (8496748)	Arens R.... Ward S.L.	1993
29	Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. (8215568)	Wilcken B.... Hammond J.	1993
30	Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (20301597)	Pagon R.A.... Stephens K.	1993
31	An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. (1456259)	Marsden D.... Sweetman L.	1992
32	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
33	A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. (1447668)	Leung K.C.... Wilcken B.	1992
34	Medium chain acyl-coenzyme A dehydrogenase deficiency. (1436730)	Bennett M.J.... Hale D.E.	1992
35	Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. (1635678)	Hegyi T.... Gardner K.	1992
36	Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. (2046713)	Ding J.H.... Chen Y.T.	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)	Yokota I.... Tanaka K.	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)	Morton D.H.... Kelley R.I.	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)	Schmidt-Sommerfeld E.... Lebenthal E.	1989
40	Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3575262)	Bennett M.J.... Pollitt R.J.	1987
41	Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. (3822638)	Taubman B.... Kelley R.I.	1987
42	Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. (3786030)	Duran M.... Wadman S.K.	1986
43	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:
²⁰GeneCards, ⁵¹Orphanet, ²²GeneTests
See all MalaCards sources

Genes related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	ACADM	Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain	469.78	Causative germline mutation ⁵¹ Genetic Tests ²² GeneCards inferred via : Publications (show sections)