ACADM - acyl-CoA dehydrogenase medium chain Gene

Also Known as MCAD; ACAD1; MCADH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 34

About ACADM

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:75,724,709-75,763,679 (from NCBI)

This gene has 61 transcripts (splice variants), 203 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues.

Summary

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACADM Products (5)

mRNA Protein Name
NM_000016.6 NP_000007.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor
NM_001127328.3 NP_001120800.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor
NM_001286042.2 NP_001272971.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c
NM_001286043.2 NP_001272972.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor
NM_001286044.2 NP_001272973.1 medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e
Molecular Function GO Annotation Evidence References Source
enables acyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
19224950 GOA
enables acyl-CoA dehydrogenase activity IMP
IMP: Inferred from mutant phenotype
2393404 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
19224950 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
37257730 GOA
enables medium-chain fatty acyl-CoA dehydrogenase activity IDA
IDA: Inferred from direct assay
1902818 GOA
Biological Process GO Annotation Evidence References Source
involved in carnitine biosynthetic process IMP
IMP: Inferred from mutant phenotype
16972171 GOA
involved in carnitine metabolic process, CoA-linked IMP
IMP: Inferred from mutant phenotype
16972171 GOA
involved in fatty acid beta-oxidation IMP
IMP: Inferred from mutant phenotype
2393404 GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
IDA: Inferred from direct assay
1902818 GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IMP
IMP: Inferred from mutant phenotype
16972171 GOA
involved in medium-chain fatty acid catabolic process IDA
IDA: Inferred from direct assay
1970566 GOA
involved in medium-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
1970566 GOA
Cellular Component GO Annotation Evidence References Source
located in axon IDA
IDA: Inferred from direct assay
21237683 GOA
located in mitochondrial matrix IDA
IDA: Inferred from direct assay
16020546 GOA
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
16020546 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACADM Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (42 - 151)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (157 - 208)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (267 - 414)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 421 a.a.
Protein Preferred Names Protein Names

medium-chain specific acyl-CoA dehydrogenase, mitochondrial

  • acyl-CoA dehydrogenase, C-4 to C-12 straight chain

Recombinant ACADM Proteins

Cat. No. Product Name Accession Purity
HY-P7451 MCAD Protein, Human (His) P11310 (K26-N421) ≥ 90%, as determined by reducing SDS-PAGE.

ACADM Antibodies

Cat. No. Product Name Application Reactivity
HY-P82222 ACADM Antibody (YA1967) WB, ICC/IF Human, Mouse, Rat
HY-P84059 ACADM Antibody (YA3756) WB, IHC-P, ICC/IF, FC, ELISA Human
HY-P84059A ACADM Antibody (YA3756)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
  • Mcad Deficiency

  • Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadm Deficiency

  • Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

  • Medium Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADMD

  • Mcadh Deficiency

  • Mcadd

  • Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase Medium-Chain Deficiency

  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Medium Chain Acyl Dehydrogenase Deficiency

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  • Mcad Deficiency

  • Medium-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadm Deficiency

  • Mcadd

  • Mcadh Deficiency

  • Acyl-Coa Dehydrogenase Medium Chain Deficiency Of

  • Medium Chain Acyl Coa Dehydrogenase Deficiency

  • Medium Chain Acyl-Coa Dehydrogenase Deficiency

  • Medium Chain Acyl Dehydrogenase Deficiency

Lipid Metabolism Disorder
  • Dyslipidemia

  • Disorder Of Fatty Acid Metabolism

  • Lipid Metabolism Disorders

  • Fatty Acid Metabolism Disorder

  • Disorder Of Lipid Metabolism

  • Abnormality Of Lipid Metabolism

  • Lipid Metabolism, Inborn Errors

  • Dyslipidemias

  • Disorders Of Lipid Metabolism

  • Congenital Disorders Of Lipid Metabolism

  • Inherited Disorders Of Lipid Metabolism

Reye Syndrome
  • Reye'S Syndrome

  • Rasmussen Encephalitis

  • Fatty Liver With Encephalopathy

  • Rasmussen'S Encephalitis

  • Re

  • Rs

  • Rasmussen Syndrome

  • Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome

  • Reye Encephalopathy

Acyl-Coa Dehydrogenase Deficiency
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 2

  • HYC2

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 2, Formerly

  • Hydrocephalus, Non-Syndromic, Autosomal Recessive 2

  • Hydrocephalus

  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 1

Hypoglycemia
  • Hypoglycaemia

  • Low Blood Sugar

  • Hypoglycaemia Nos

  • Spontaneous Hypoglycaemia

  • Nondiabetic Hypoglycaemia

  • Hypoglycaemic Disorder Nos

  • Hypoglycaemic Syndrome

Sudden Infant Death Syndrome
  • SIDS

  • Sudden Infant Death Syndrome, Susceptibility To

  • Cot Death

  • Crib Death

  • Sudden Death Of Nonspecific Cause In Infancy

  • Sudden Infant Death

  • Death, Sudden, Syndrome, Infant

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
  • Scad Deficiency

  • Acads Deficiency

  • Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

  • Scadh Deficiency

  • Short-Chain Acyl-Coa Dehydrogenase Deficiency

  • Deficiency Of Butyryl-Coa Dehydrogenase

  • Short Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADSD

  • Scadd

  • Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

  • Acyl-Coa Dehydrogenase Short-Chain Deficiency

Encephalopathy
  • Brain Diseases

  • Encephalopathies

  • Toxic Encephalopathy

  • Toxic Brain Fever

  • Toxic Brain Inflammation

  • Toxic Brain Stem Inflammation

  • Toxic Cerebral Fever

  • Toxic Cerebrospinal Fever

  • Toxic Cerebrospinal Inflammation

  • Encephalopathy Nec

  • Encephalopathy Nos

  • Encephalopathy Disease

  • Encephalopathy Syndrome

Organic Acidemia
  • Organic Aciduria

  • Disorder Of Organic Acid Metabolism

  • Organic Acid Metabolism Disorder

  • Organic Acidemias

  • Inherited Organic Acidemia

  • Organic Acidurias

  • Aciduria Organic

Multiple Carboxylase Deficiency
  • Mcd

  • Holocarboxylase Synthetase Deficiency

Galactosemia I
  • Galactosemia

  • Galt Deficiency

  • Classic Galactosemia

  • Galactose-1-Phosphate Uridylyltransferase Deficiency

  • Galactose-1-Phosphate Uridyltransferase Deficiency

  • GALAC1

  • Galactosemia, Classic

  • Galactosemia Type 1

  • Galactosemias

  • Classical Galactosemia

  • Galactosaemia

  • Galactose Intolerance

  • Epimerase Deficiency Galactosemia

  • Galactokinase Deficiency Disease

  • Galactose Epimerase Deficiency

  • Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease

  • Gale Deficiency

  • Galk Deficiency

  • Udp-Galactose-4-Epimerase Deficiency Disease

  • Utp Hexose-1-Phosphate Uridylyltransferase Deficiency

  • Galactosemia 1

  • Galactosemia, Duarte Variant

  • Deficiency Of Galactokinase

  • Udpglucose 4-Epimerase Deficiency Disease

  • Classical Galactosaemia

  • Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency

  • Classic Galactosaemia

  • Deficiency Of Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase

  • Deficiency Of Galactose-1-Phosphate Uridylyltransferase

  • Galactose-1-Phosphate Uridyl Transferase Deficiency

  • Transferase Deficiency Galactosemia

  • Deficiency Of Uridyl Transferase

  • Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase

  • Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Phenylketonuria
  • Phenylalanine Hydroxylase Deficiency

  • PKU

  • Pah Deficiency

  • Folling Disease

  • Maternal Phenylketonuria

  • Phenylketonurias

  • Oligophrenia Phenylpyruvica

  • Hyperphenylalaninemia, Non-Pku Mild

  • Folling'S Disease

  • Phenylalaninemia

  • Mild Phenylketonuria

  • Mild Pku

  • Variant Pku

  • Variant Phenylketonuria

  • Mpku

  • Deficiency Disease, Phenylalanine Hydroxylase

  • Phenylketonuria, Maternal

  • Phenylalanine Hydroxylase Deficiency Disease

  • Hyperphenylalaninemic Embryopathy

  • Maternal Pku

  • Maternal Hyperphenylalaninemia

  • Phenylketonuric Embryopathy

  • Hyperphenylalaninemia

  • HPA

  • Non-Phenylketonuria Hyperphenylalaninemia

  • NON-PKU HPA

  • Phenylketonuria Maternal

  • Classical Phenylketonuria

  • Hyperphenylalaninaemia

  • Pku - [Phenylketonuria]

Methylmalonic Acidemia
  • Methylmalonic Aciduria

  • Mma

  • Acidemia, Methylmalonic

  • Isolated Methylmalonic Acidemia

Carnitine Deficiency, Systemic Primary
  • Carnitine Uptake Defect

  • Renal Carnitine Transport Defect

  • Systemic Primary Carnitine Deficiency

  • CDSP

  • Systemic Carnitine Deficiency

  • Carnitine Transporter Deficiency

  • Cud

  • Primary Carnitine Deficiency

  • Carnitine Uptake Deficiency

  • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine

  • Carnitine Deficiency, Primary

  • Systemic Primary Carnitine Deficiency Disease

  • Deficiency Of Plasma-Membrane Carnitine Transporter

  • Scd

  • Carnitine Transporter, Plasma-Membrane, Deficiency Of

  • Carnitine Transport Defect

  • Carnitine Plasma-Membrane Transporter Deficiency

  • Carnitine Transporter Defect

  • Spcd

Mitochondrial Complex I Deficiency, Nuclear Type 20
  • Acyl-Coa Dehydrogenase 9 Deficiency

  • Acad9 Deficiency

  • MC1DN20

  • Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

  • Nuclear Type Mitochondrial Complex I Deficiency 20

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

  • Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

  • Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
  • Vlcad Deficiency

  • Very Long Chain Acyl-Coa Dehydrogenase Deficiency

  • Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Lcad Deficiency

  • Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

  • Long Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADVLD

  • Acadl Deficiency

  • Vlcadd

  • Long-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadvl

  • Acyl-Coa Dehydrogenase Very Long Chain Deficiency

  • Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

  • Vlcad-C

  • Vlcad-H

  • Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

  • Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

  • Acyl-Coa Dehydrogenase Long-Chain Deficiency

  • Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

  • Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Abdominal Obesity-Metabolic Syndrome 1
  • Metabolic Syndrome X

  • Metabolic Syndrome

  • AOMS1

  • Dysmetabolic Syndrome X

  • Metabolic Disease

  • Abdominal Obesity Metabolic Syndrome

3-Methylcrotonyl-Coa Carboxylase Deficiency
  • 3-Methylcrotonylglycinuria

  • Mcc Deficiency

  • Methylcrotonyl-Coa Carboxylase Deficiency

  • Bmcc Deficiency

  • 3-Mcc Deficiency

  • 3mcc

  • Mccd

  • 3mcc Deficiency

  • Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

  • 3-Mcc

  • 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

  • Deficiency Of Methylcrotonoyl-Coa Carboxylase

  • 3-Methyl Crotonyl-Coa Carboxylase Deficiency

  • 3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Carnitine-Acylcarnitine Translocase Deficiency
  • Cact Deficiency

  • Carnitine Acylcarnitine Translocase Deficiency

  • CACTD

  • Carnitine-Acylcarnitine Carrier Deficiency

Total Anomalous Pulmonary Venous Return 1
  • Scimitar Syndrome

  • Total Anomalous Pulmonary Venous Return

  • Anomalous Pulmonary Venous Return

  • Scimitar Anomaly

  • TAPVR1

  • Apvr

  • Halasz Syndrome

  • Hypogenetic Lung Syndrome

  • Pulmonary Venolobar Syndrome

  • TAPVR

  • Congenital Total Pulmonary Venous Return Anomaly

  • Congenital Venolobar Syndrome

  • Mirror-Image Lung Syndrome

  • Vena Cava Bronchovascular Syndrome

  • Pulmonary Venous Return Anomaly

  • Congenital Pulmonary Venolobar Syndrome

  • Epibronchial Right Pulmonary Vein Syndrome

Carnitine Palmitoyltransferase I Deficiency
  • Carnitine Palmitoyl Transferase 1a Deficiency

  • Cpt1a Deficiency

  • Cpt I Deficiency

  • Carnitine Palmitoyl Transferase Ia Deficiency

  • Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

  • Hepatic Carnitine Palmitoyl Transferase I Deficiency

  • L-Cpt1 Deficiency

  • Carnitine Palmitoyltransferase 1a Deficiency

  • Carnitine Palmitoyltransferase Ia Deficiency

  • Cpt Deficiency, Hepatic, Type I

  • Cpt Deficiency, Hepatic, Type Ia

  • Hepatic Carnitine Palmitoyltransferase 1 Deficiency

  • L-Cpti Deficiency

  • Hepatic Cpt Deficiency Type I

  • Hepatic Cpt1

  • L-Cpt 1 Deficiency

  • Cpt 1a Deficiency

  • Liver Form Of Carnitine Palmitoyltransferase Deficiency

  • CPT1AD

  • Cpt-I Deficiency

Biotinidase Deficiency
  • Late-Onset Multiple Carboxylase Deficiency

  • BTD DEFICIENCY

  • Multiple Carboxylase Deficiency, Late-Onset

  • Multiple Carboxylase Deficiency, Juvenile-Onset

  • Juvenile-Onset Multiple Carboxylase Deficiency

  • Biotin Deficiency

  • Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency

  • Deficiency Of Biotinidase

  • Biot

  • Carboxylase Deficiency, Multiple, Late-Onset

  • Late-Onset Mcd

  • Mcd Juvenile Form

  • Biotin Deficiency Disease

Lipoid Congenital Adrenal Hyperplasia
  • Congenital Adrenal Hyperplasia

  • Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency

  • Congenital Lipoid Adrenal Hyperplasia

  • Lipoid Cah

  • Lipoid Adrenal Hyperplasia

  • Adrenal Hyperplasia 1

  • Cah

  • Clah

  • LCAH

  • Adrenal Hyperplasia I

  • Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism

  • Congenital Adrenal Hyperplasia Lipoid

  • Adrenal Hyperplasia, Congenital

  • Congenital Adrenal Hyperplasia, Lipoid

  • AH1

  • Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism

  • Adrenal Hyperplasia Congenital

  • Hyperplasia, Adrenal, Lipoid, Congenital

  • Congenital Adrenogenital Disorders Associated With Enzyme Deficiency

  • Congenital Adrenal Cortical Hyperplasia

  • Congenital Adrenal Gland Hyperplasia

  • Congenital Adrenogenital Syndrome

  • Congenital Hyperadrenocorticism

  • Congenital Adrenogenitalism

  • Congenital Female Adrenal Pseudohermaphroditism

Nuclear Type Mitochondrial Complex I Deficiency
  • Mc1dn

  • Mitochondrial Complex I Deficiency, Nuclear Type

  • Mitochondrial Complex I Deficiency, Nuclear

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Isovaleric Acidemia
  • Isovaleric Acid Coa Dehydrogenase Deficiency

  • Isovaleryl-Coa Dehydrogenase Deficiency

  • IVA

  • Ivd Deficiency

  • Acidemia, Isovaleric

  • Isovaleric Aciduria

  • Isovaleryl Coa Carboxylase Deficiency

  • Isovaleric Acid-Coa Dehydrogenase Deficiency

Mitochondrial Trifunctional Protein Deficiency
  • Tfp Deficiency

  • MTPD

  • Trifunctional Protein Deficiency

  • Trifunctional Protein Deficiency With Myopathy And Neuropathy

  • Tfpd

  • Familial Hypertrophic Cardiomyopathy

  • Cardiomyopathy Familial Hypertrophic

  • Familial Hcm

  • Heritable Hypertrophic Cardiomyopathy

  • Mtp Deficiency

  • Tpa Deficiency

  • Trifunctional Protein Deficiency, Type 2

  • Abetalipoproteinemia

Multiple Acyl-Coa Dehydrogenase Deficiency
  • MADD

  • Ethylmalonic-Adipicaciduria

  • Ema

  • Glutaric Acidemia Iia

  • Glutaric Acidemia Iib

  • Ga Ii

  • Glutaric Acidemia Iic

  • Glutaric Acidemia Type 2

  • Glutaric Acidemia Ii

  • Glutaric Aciduria Ii

  • Electron Transfer Flavoprotein Deficiency

  • Glutaric Aciduria Type 2

  • Mad Deficiency

  • Glutaric Acidemia Type Ii

  • Glutaric Aciduria 2

  • Etfa Deficiency

  • Etfb Deficiency

  • Etfdh Deficiency

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency

  • Ga2

  • Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

  • Electron Transfer Flavoprotein Dehydrogenase Deficiency

  • Ga 2

  • Glutaric Acidemia 2

  • Glutaric Acidemia, Type 2

  • Glutaric Aciduria, Type 2

  • Mad

  • Multiple Fad Dehydrogenase Deficiency

  • Ethylmalonic Adipic Aciduria

  • Glutaricaciduria Ii

  • Glutaric Aciduria 2a

  • GA2A

  • Gaiia

  • Glutaricaciduria Iia

  • Glutaric Aciduria 2b

  • GA2B

  • Gaiib

  • Glutaricaciduria Iib

  • Glutaric Aciduria 2c

  • GA2C

  • Gaiic

  • Glutaricaciduria Iic

  • Glutaricaciduria, Type Iia

  • Glutaric Acidemia Type 2a

  • Glutaric Acidemia Type 2c

  • Glutaric Aciduria Iia

  • Glutaric Aciduria Iib

  • Glutaric Aciduria Iic

Alpha-Methylacetoacetic Aciduria
  • Beta-Ketothiolase Deficiency

  • 3-Ketothiolase Deficiency

  • 3-Oxothiolase Deficiency

  • Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

  • Alpha-Methylacetoaceticaciduria

  • Mat Deficiency

  • T2 Deficiency

  • 2-Methyl-3-Hydroxybutyricacidemia

  • Beta Ketothiolase Deficiency

  • Pseudo-Zellweger Syndrome

  • 2-Methyl-3-Hydroxybutyric Acidemia

  • 3-Ktd Deficiency

  • Peroxisomal Thiolase Deficiency

  • 2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • 3-Alpha-Oxothiolase Deficiency

  • Methylacetoacetyl-Coenzyme A Thiolase Deficiency

  • Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

  • Β-Ketothiolase Deficiency

  • Alpha Methylacetoacetic Aciduria

  • Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

  • Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

  • 3KTD

  • Aciduria, Alpha-Methylacetoacetic

  • Deficiency Of Acetyl-Coa Acetyltransferase

  • Deficiency Of Acetyl-Coa Acyltransferase

  • Hepatic Methionine Adenosyltransferase Deficiency

  • Bifunctional Peroxisomal Enzyme Deficiency

Carnitine Palmitoyltransferase Ii Deficiency, Infantile
  • Carnitine Palmitoyltransferase Ii Deficiency

  • Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

  • Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

  • Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia

  • Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

  • Cpt Ii Deficiency, Hepatic

  • Cpt2 Deficiency, Infantile

  • Cpt Ii Deficiency, Infantile

  • Cpt Ii Deficiency

  • Carnitine Palmitoyltransferase 2 Deficiency

  • Cpt2

  • Carnitine Palmitoyltransferase Deficiency Type 2

  • Carnitine Palmitoyl Transferase 2 Deficiency

  • Cpt-Ii

  • Infantile Carnitine Palmitoyltransferase Ii Deficiency

  • Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

  • Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

  • Carnitine Palmitoyltransferase Ii Deficiency

  • Cpt2 Deficiency

  • Cptii

  • Cpt2, Hepatocardiomuscular Form

  • Cpt2, Severe Infantile Form

  • Cptii, Hepatocardiomuscular Form

  • Cptii, Severe Infantile Form

  • Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

  • Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

  • Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

  • Carnitine Palmitoyltransferase 2 Deficiency, Infantile

  • CPT2DI

  • Cpt Deficiency, Hepatic, Type Ii

  • Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Maple Syrup Urine Disease
  • MSUD

  • Bckd Deficiency

  • Branched-Chain Ketoaciduria

  • Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

  • Keto Acid Decarboxylase Deficiency

  • Maple Syrup Urine Disease, Type Ii

  • Branched Chain Ketoaciduria

  • Classic Maple Syrup Urine Disease

  • Intermittent Maple Syrup Urine Disease

  • Maple Syrup Urine Disease, Type Ia

  • Ketoacidaemia

  • Bckdh Deficiency

  • Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

  • Thiamine-Responsive Maple Syrup Urine Disease

  • Intermediate Maple Syrup Urine Disease

  • Maple Syrup Urine Disease Type 1a

  • Maple Syrup Urine Disease Type 1b

  • Maple Syrup Urine Disease Type 2

  • Maple Syrup Urine Disease, Type Ib

  • Dihydrolipoamide Dehydrogenase Deficiency

  • Branched-Chain Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Disease

  • Ketoacidemia

  • Classic Bckd Deficiency

  • Classic Msud

  • Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Classic Branched-Chain Ketoaciduria

  • Thiamine-Responsive Bckd Deficiency

  • Thiamine-Responsive Msud

  • Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Intermittent Bckd Deficiency

  • Intermittent Msud

  • Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

  • Maple Syrup Urine Disease 1a

  • MSUD1A

  • Maple Syrup Urine Disease Type Ia

  • Msud Type Ia

  • Maple Syrup Urine Disease 1b

  • MSUD1B

  • Maple Syrup Urine Disease Type Ib

  • Msud Type Ib

  • Maple Syrup Urine Disease 2

  • MSUD2

  • Maple Syrup Urine Disease Type Ii

  • Msud Type Ii

  • Nadh Cytochrome B5 Reductase Deficiency

  • Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

  • Ketonemia

  • Maple Syrup Urine Disease, Type 1b

  • Ketoacid Decarboxylase Deficiency

  • Oxoacid Decarboxylase Deficiency

  • Branched Chain Ketoacid Dehydrogenase Deficiency

  • Msud - [Maple-Syrup-Urine Disease]

  • Ketoaminoacidaemia

  • Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

  • Maple-Syrup-Urine Disorder

  • Maple-Syrup-Urine Syndrome

Citrullinemia, Classic
  • Citrullinemia

  • Classic Citrullinemia

  • Argininosuccinate Synthetase Deficiency

  • Ass Deficiency

  • Citrullinemia Type I

  • CTLN1

  • Citrullinuria

  • Citrullinemia, Type I

  • Argininosuccinic Acid Synthetase Deficiency

  • Ctnl1

  • Citrullinemia 1

  • Deficiency Of Citrulline-Aspartate Ligase

  • Cit

  • Argininosuccinate Synthase Deficiency

  • Argininosuccinic Acid Synthase Deficiency

  • Citrullinemia Type 1

  • Citrullinemia Classical

Glutaric Acidemia I
  • Glutaryl-Coa Dehydrogenase Deficiency

  • GA1

  • Glutaric Acidemia Type 1

  • Glutaric Aciduria 1

  • Glutaric Aciduria Type 1

  • Glutaric Acidemia Type I

  • Glutaric Aciduria, Type 1

  • Glutaric Aciduria I

  • Ga I

  • Glutaricaciduria, Type I

  • Glutaryl-Coenzyme A Dehydrogenase Deficiency

  • Glutaric Academia Type 1

  • Glutaric Aciduria Type I

  • Ga-1

  • Gcdh Deficiency

  • Ga 1

  • Glutaric Acidemia 1

  • Gcdhd

  • Glutaric Aciduria, Type I

  • Glutaricaciduria I

  • Ga-I

  • Glutaricaciduria, Type 1

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ACADM RGD RGD:2012
Canis familiaris ACADM VGNC VGNC:37494
Macaca mulatta ACADM VGNC VGNC:69595
Bos taurus ACADM VGNC VGNC:25524
Mus musculus ACADM MGD MGI:87867
Felis catus ACADM VGNC VGNC:68816
Others ACADM NCBI