PYRUVATE METABOLIC PATHWAY (PW:0000043)
Description
The pyruvate metabolic pathway, the sum of biochemical reactions involving pyruvate, is at the intersection of pathways important for glucose and energy homeostasis. Reaction 10 at the end of glycolysis, carried out by pyruvate kinases, converts phosphoenolpyruvate (PEP) to ATP and pyruvate which can be converted to acetyl-CoA or anaerobically to lactate (considered the end of anaerobic glycolysis). Pyruvate, and to a much lesser extent acetyl-CoA, can also be derived from the breakdown of several amino acids, or, in the case of acetyl-CoA, from fatty acid oxidation. Acetyl-CoA is the only precursor of the citric acid cycle pathway (TCA or Krebs cycle) that completes the oxidation of all metabolic fuels. Alternatively, pyruvate is converted to oxaloacetate (OAA) by pyruvate carboxylase. OAA can have several fates; it can serve as a precursor of PEP in gluconeogenesis, an intermediate in the TCA cycle, or part of a shuttle termed 'pyruvate cycling' with possible implications for glucose-stimulated insulin secretion. The conversion of pyruvate to OAA, carried out by pyruvate carboxylase, or its irreversible decarboxylation to acetyl-CoA, carried out by the pyruvate dehydrogenase complex PDC (described in detail below), are important reactions involving pyruvate. The PDC consists of E1 pyruvate dehydrogenase alpha (Pdha) and beta (Pdhb), E2 - dihydrolipoamide S-acetyltransferase (Dlat) and E3 - dihydrolipoamide dehydrogenase (Dld) enzymes that carry out the five steps of the overall reaction, the regulatory pyruvate dehydrogenase kinases (Pdk) and phosphatases (Pdp) and a protein known as E3bp (Pdhx). A model for the complex suggests a symmetric core composed of multiple copies of E2 and Pdhx to which multiple copies of E1 and E3, several homo or hetero Pdk dimers and Pdp heterodimers are attached. E1 carries out the rate-limiting step in the PDC-catalyzed reactions. Step 1 involves the TPP-dependent decarboxylation of pyruvate followed by acetylation of the lipoyl moiety of E2 in step 2. E2 catalyzes the reaction of step 3 yielding acetyl-CoA. In step 4, the lipoamide group of E2 is restored by E3; E3 is reoxidized in step 5. Pdk(s) inhibit E1 activity; Pdp(s) dephosphorylate the modified serines and restore it. Pdk and Pdp activities are in turn regulated by nutritional states or tissue demands 'sensed' as concentration/ratios of metabolites or by the control these states exert on their transcription.
To see the ontology report for annotations, GViewer and download click here [click to see the ontology report for associated GO term -
GO:0006090 , KEGG map -
map00620 and entry at
Reactome ]
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Pathway Diagram:
Genes in Pathway:
G
Acaca acetyl-CoA carboxylase alpha
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr10:69,014,261...69,276,453
G
Acacb acetyl-CoA carboxylase beta
IEA KEGG rno:00620
NCBI chr12:42,365,800...42,477,651
G
Acat1 acetyl-CoA acetyltransferase 1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 8:53,979,813...54,008,861
G
Acat2 acetyl-CoA acetyltransferase 2
IEA KEGG rno:00620
NCBI chr 1:47,695,833...47,713,879
G
Acot12 acyl-CoA thioesterase 12
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 2:22,986,867...23,027,538
G
Acss1 acyl-CoA synthetase short-chain family member 1
IEA KEGG rno:00620
NCBI chr 3:139,450,383...139,500,325
G
Acss2 acyl-CoA synthetase short-chain family member 2
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 3:144,003,808...144,047,452
G
Acyp1 acylphosphatase 1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 6:104,919,162...104,932,348
G
Acyp2 acylphosphatase 2
IEA KEGG rno:00620
NCBI chr14:104,201,894...104,371,415
G
Akr1b1 aldo-keto reductase family 1 member B1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 4:62,932,033...62,946,126
G
Aldh1a1 aldehyde dehydrogenase 1 family, member A1
IEA KEGG rno:00620
NCBI chr 1:218,000,470...218,152,962
G
Aldh1a7 aldehyde dehydrogenase family 1, subfamily A7
IEA KEGG rno:00620
NCBI chr 1:218,201,443...218,241,410
G
Aldh1b1 aldehyde dehydrogenase 1 family, member B1
IEA KEGG rno:00620
NCBI chr 5:60,063,370...60,068,378
G
Aldh2 aldehyde dehydrogenase 2 family member
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr12:34,949,549...34,982,527
G
Aldh3a2 aldehyde dehydrogenase 3 family, member A2
IEA KEGG rno:00620
NCBI chr10:45,928,313...45,949,366
G
Aldh7a1 aldehyde dehydrogenase 7 family, member A1
IEA KEGG rno:00620
NCBI chr18:50,003,242...50,042,193
G
Aldh9a1 aldehyde dehydrogenase 9 family, member A1
IEA KEGG rno:00620
NCBI chr13:79,505,738...79,522,539
G
Dlat dihydrolipoamide S-acetyltransferase
ISO IEA KEGG SMPDB PMID:11795479 SMP:00060 rno:00620, RGD:2307427
NCBI chr 8:50,979,151...51,004,435
G
Dld dihydrolipoamide dehydrogenase
ISO IEA KEGG SMPDB PMID:11795479 SMP:00060 rno:00620, RGD:2307427
NCBI chr 6:47,904,153...47,924,814
G
Glo1 glyoxalase 1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr20:8,663,617...8,681,661
G
Grhpr glyoxylate and hydroxypyruvate reductase
ISO SMPDB SMP:00060
NCBI chr 5:59,234,179...59,243,614
G
Hagh hydroxyacyl glutathione hydrolase
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr10:13,874,883...13,889,527
G
Ldha lactate dehydrogenase A
IEA KEGG rno:00620
NCBI chr 1:97,371,823...97,381,247
G
Ldhal1 lactate dehydrogenase A like 1
IEA KEGG rno:00620
NCBI chr 8:30,363,220...30,364,836
G
Ldhal6b lactate dehydrogenase A-like 6B
IEA KEGG rno:00620
NCBI chr 1:45,997,845...45,999,268
G
Ldhb lactate dehydrogenase B
IEA KEGG rno:00620
NCBI chr 4:175,428,382...175,446,403
G
Ldhc lactate dehydrogenase C
IEA KEGG rno:00620
NCBI chr 1:97,385,984...97,403,382
G
Ldhd lactate dehydrogenase D
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr19:39,583,529...39,588,397
G
Mdh1 malate dehydrogenase 1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr14:95,630,625...95,645,920
G
Mdh2 malate dehydrogenase 2
IEA KEGG rno:00620
NCBI chr12:20,894,269...20,907,225
G
Me1 malic enzyme 1
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr 8:87,549,043...87,660,251
G
Me2 malic enzyme 2
IEA ISO KEGG SMPDB SMP:00060 rno:00620
NCBI chr18:67,350,833...67,400,987
G
Me3 malic enzyme 3
IEA KEGG rno:00620
NCBI chr 1:143,534,024...143,735,551
G
Pc pyruvate carboxylase
IEA IDA ISO KEGG SMPDB PMID:15507531 SMP:00060 rno:00620, RGD:1601554
NCBI chr 1:201,799,374...201,898,412
G
Pck1 phosphoenolpyruvate carboxykinase 1
IEA ISO KEGG lists it, no info
KEGG SMPDB SMP:00060 rno:00620
NCBI chr 3:161,930,256...161,936,205
G
Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
IEA KEGG rno:00620
NCBI chr15:29,027,891...29,036,729
G
Pdha1 pyruvate dehydrogenase E1 subunit alpha 1
IEA ISO KEGG lists it but there is info
KEGG SMPDB PMID:11795479 SMP:00060 rno:00620, RGD:2307427
NCBI chr X:34,700,481...34,714,309
G
Pdha2 pyruvate dehydrogenase E1 subunit alpha 2
IEA ISO KEGG PMID:11795479 rno:00620, RGD:2307427
NCBI chr 2:229,872,300...229,873,848
G
Pdhb pyruvate dehydrogenase E1 subunit beta
ISO IEA KEGG SMPDB PMID:11795479 SMP:00060 rno:00620, RGD:2307427
NCBI chr15:16,752,561...16,758,503
G
Pdhx pyruvate dehydrogenase complex, component X
ISO RGD
PMID:11795479 RGD:2307427
NCBI chr 3:89,372,248...89,431,779
G
Pdk1 pyruvate dehydrogenase kinase 1
ISO RGD
PMID:11795479 PMID:17310282 RGD:2307427 , RGD:2307428
NCBI chr 3:56,705,824...56,733,040
G
Pdk2 pyruvate dehydrogenase kinase 2
ISO RGD
PMID:11795479 PMID:17310282 RGD:2307427 , RGD:2307428
NCBI chr10:79,972,550...79,987,074
G
Pdk3 pyruvate dehydrogenase kinase 3
ISO RGD
PMID:11795479 PMID:17310282 RGD:2307427 , RGD:2307428
NCBI chr X:58,486,699...58,553,533
G
Pdk4 pyruvate dehydrogenase kinase 4
ISO RGD
PMID:11795479 PMID:17310282 RGD:2307427 , RGD:2307428
NCBI chr 4:33,591,796...33,601,798
G
Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1
ISO RGD
PMID:17310282 RGD:2307428
NCBI chr 5:25,446,843...25,455,107
G
Pdp2 pyruvate dehydrogenase phosphatase catalytic subunit 2
ISO RGD
PMID:17310282 RGD:2307428
NCBI chr19:386,408...394,068
G
Pklr pyruvate kinase L/R
IEA IDA ISO KEGG SMPDB PMID:4273555 SMP:00060 rno:00620, RGD:2302790
NCBI chr 2:174,543,008...174,551,863
G
Pkm pyruvate kinase M1/2
IDA RGD
PMID:4273555 RGD:2302790
NCBI chr 8:60,057,629...60,079,600
Pathway Gene Annotations
Disease Annotations Associated with Genes in the pyruvate metabolic pathway
Acaca Acetyl-Coa Carboxylase Deficiency , atherosclerosis , autism spectrum disorder , autistic disorder , chromosome 17q12 deletion syndrome , congestive heart failure , genetic disease , hepatocellular carcinoma , hereditary breast ovarian cancer syndrome , hyperphosphatasia with impaired intellectual development syndrome 5 , Hypertriglyceridemia , Insulin Resistance , metabolic dysfunction-associated steatohepatitis , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , Neurodevelopmental Disorders , schizophrenia , steatotic liver disease Acacb autism spectrum disorder , Breast Neoplasms , Cardiac Fibrosis , Cardiotoxicity , Diastolic Dysfunction , genetic disease , Hypertriglyceridemia , hypertrophic cardiomyopathy , immunodeficiency with hyper IgM type 5 , Insulin Resistance , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , obesity , steatotic liver disease Acat1 arteriosclerosis , ataxia telangiectasia , beta-ketothiolase deficiency , carbohydrate metabolic disorder , Chromosome 11, Partial Trisomy 11q , end stage renal disease , Experimental Liver Cirrhosis , genetic disease , intellectual disability , nephrotic syndrome , steatotic liver disease Acat2 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome , arteriosclerosis , beta-ketothiolase deficiency , coronary artery disease , Cytosolic Acetoacetyl-CoA Thiolase Deficiency , genetic disease , Hypercholesterolemia , Metabolic Syndrome , premature menopause Acot12 genetic disease , liver cancer , Neurodevelopmental Disorders Acss1 Experimental Melanoma , genetic disease , Hypothermia Acss2 Experimental Melanoma , genetic disease , Inflammation , long QT syndrome , lymphangioleiomyomatosis , morbid obesity , orofacial cleft Acyp1 Developmental Disabilities , genetic disease , intellectual disability , Niemann-Pick disease type C1 , Niemann-Pick disease type C2 Acyp2 chronic recurrent multifocal osteomyelitis , genetic disease , Hearing Loss, Cisplatin-Induced Akr1b1 adult respiratory distress syndrome , Albuminuria , allergic disease , arteriosclerosis , cataract , Diabetes Complications , Diabetic Nephropathies , diabetic neuropathy , diabetic retinopathy , Endometrial Neoplasms , endometriosis , Endotoxin-Induced Uveitis , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , galactosemia , genetic disease , hepatocellular carcinoma , Hyperalgesia , hyperglycemia , hypokalemia , Inflammation , Myocardial Ischemia , nephrogenic diabetes insipidus , pleomorphic xanthoastrocytoma , stomach cancer , type 2 diabetes mellitus Aldh1a1 autism spectrum disorder , Creutzfeldt-Jakob disease , Experimental Liver Cirrhosis , genetic disease , liver disease , melanoma , metabolic dysfunction-associated steatotic liver disease , Neoplastic Cell Transformation , pancreatic cancer , Parkinsonism , renal cell carcinoma Aldh1a7 Hemorrhagic Shock Aldh1b1 cholestasis , Colonic Neoplasms , Experimental Liver Cirrhosis , genetic disease , Hepatomegaly , metabolic dysfunction-associated steatotic liver disease Aldh2 Acute Alcohol Sensitivity , alcohol dependence , alcohol use disorder , alcohol-induced mental disorder , Alcoholic Fatty Liver , alcoholic liver cirrhosis , Alcoholic Liver Diseases , Alzheimer's disease , AMED syndrome , asthma , autism spectrum disorder , brain infarction , Chemical and Drug Induced Liver Injury , Colorectal Neoplasms , Diabetes Complications , diabetic neuropathy , esophageal cancer , Esophageal Neoplasms , esophagus squamous cell carcinoma , Experimental Liver Cirrhosis , Flushing , genetic disease , Genetic Predisposition to Disease , heart disease , Heart Injuries , hepatocellular carcinoma , heroin dependence , hypertension , Insulin Resistance , Kidney Reperfusion Injury , liver cancer , liver disease , Liver Reperfusion Injury , male infertility , Melanosis , metabolic dysfunction-associated steatotic liver disease , myocardial infarction , Myocardial Ischemia , Myocardial Reperfusion Injury , occupational dermatitis , pancreatic cancer , Parkinson's disease , perinatal necrotizing enterocolitis , pre-malignant neoplasm , Sepsis , type 1 diabetes mellitus , type 2 diabetes mellitus , vascular disease , Ventricular Dysfunction Aldh3a2 autism spectrum disorder , autistic disorder , common variable immunodeficiency 2 , genetic disease , Joubert syndrome 1 , Meckel Syndrome 9 , Potocki-Lupski syndrome , Sjogren-Larsson syndrome Aldh7a1 adult-onset autosomal dominant demyelinating leukodystrophy , benign neonatal seizures , bone disease , coloboma , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 13 , Disease Progression , early-onset vitamin B6-dependent epilepsy 4 , epilepsy , familial adenomatous polyposis 1 , genetic disease , hepatocellular carcinoma , Hereditary Neoplastic Syndromes , hydrocephalus , intellectual disability , Leukoencephalopathies , Nervous System Malformations , Neurodevelopmental Disorders , pyridoxine-dependent epilepsy , Stomach Neoplasms , Ventriculomegaly , visual epilepsy Aldh9a1 Chemical and Drug Induced Liver Injury , COVID-19 , gastrointestinal stromal tumor , genetic disease , parathyroid carcinoma , prostate cancer Dlat ataxia telangiectasia , BH4-deficient hyperphenylalaninemia A , Carney-Stratakis syndrome , Chemical and Drug Induced Liver Injury , Chromosome 11, Partial Trisomy 11q , congenital disorder of glycosylation Il , dilated cardiomyopathy 1II , genetic disease , intellectual disability , Myocardial Ischemia , prostate cancer , Pyruvate Dehydrogenase E2 Deficiency , Sleep Deprivation Dld Congenital Infantile Lactic Acidosis due to LAD Deficiency , genetic disease , Leigh disease , lissencephaly 5 , maple syrup urine disease , pleomorphic xanthoastrocytoma , pyruvate decarboxylase deficiency , Subacute Necrotizing Encephalopathy of Leigh, Infantile Glo1 anxiety disorder , autistic disorder , depressive disorder , Diabetes Complications , Diabetic Nephropathies , diabetic retinopathy , end stage renal disease , esophagus squamous cell carcinoma , genetic disease , Kidney Reperfusion Injury , melanoma , type 2 diabetes mellitus , vascular disease Grhpr acromesomelic dysplasia, Maroteaux type , COVID-19 , distal arthrogryposis type 1A , familial hypocalciuric hypercalcemia , frontotemporal dementia and/or amyotrophic lateral sclerosis 6 , galactosemia , genetic disease , nephrocalcinosis , primary ciliary dyskinesia , primary hyperoxaluria , primary hyperoxaluria type 2 , Prostatic Neoplasms Hagh epilepsy , Experimental Liver Cirrhosis , genetic disease , Glyoxalase II Deficiency , idiopathic generalized epilepsy , short-rib thoracic dysplasia 9 with or without polydactyly , tuberous sclerosis 2 Ldha Acute Liver Failure , Animal Disease Models , cardiomyopathy , COVID-19 , Experimental Neoplasms , Fanconi syndrome , genetic disease , Glycogen Storage Disease XI , hyperglycemia , hypertension , hypertrophic cardiomyopathy 12 , intellectual disability , lung adenocarcinoma , myocardial infarction , myoglobinuria , pancreatic cancer , progressive myoclonus epilepsy 7 Ldhal6b Bloom syndrome , Breast Neoplasms , colorectal cancer , focal segmental glomerulosclerosis 6 , genetic disease Ldhb Acute Coronary Syndrome , Breast Neoplasms , dilated cardiomyopathy 1O , ductal carcinoma in situ , Experimental Liver Cirrhosis , genetic disease , inherited metabolic disorder , Lactate Dehydrogenase B Deficiency , Neoplasm Invasiveness , Prostatic Neoplasms , renal cell carcinoma Ldhc genetic disease , hypertrophic cardiomyopathy 12 , intellectual disability , lung disease , male infertility , progressive myoclonus epilepsy 7 Ldhd genetic disease , Lactic Aciduria due to D-Lactic Acid , macular corneal dystrophy , paraplegia Mdh1 Acute Liver Failure , adult respiratory distress syndrome , Bardet-Biedl syndrome , Chemical and Drug Induced Liver Injury , developmental and epileptic encephalopathy 88 , Experimental Liver Cirrhosis , genetic disease , hypertension , Liver Injury Mdh2 Animal Mammary Neoplasms , brain disease , brain ischemia , carcinoma , Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB , congestive heart failure , developmental and epileptic encephalopathy 51 , Experimental Mammary Neoplasms , genetic disease , myocardial infarction , ovarian carcinoma , pleomorphic xanthoastrocytoma Me1 acute promyelocytic leukemia , Chemical and Drug Induced Liver Injury , COVID-19 , genetic disease , hepatocellular carcinoma , immunodeficiency 23 , obesity , Right Ventricular Hypertrophy , Weight Gain Me2 genetic disease , intellectual disability , Right Ventricular Hypertrophy Me3 exudative vitreoretinopathy 1 , genetic disease , intellectual disability Pc Aicardi-Goutieres Syndrome 3 , bipolar disorder , Burkitt lymphoma , Chemical and Drug Induced Liver Injury , Congenital Infantile Lactic Acidosis , Developmental Disabilities , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , genetic disease , intellectual disability , Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency , pyruvate carboxylase deficiency disease , Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations , type 2 diabetes mellitus Pck1 Alzheimer's disease , celiac disease , Chronic Intermittent Hypoxia , congestive heart failure , Endotoxemia , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , Fetal Growth Retardation , genetic disease , hepatocellular carcinoma , hyperglycemia , metabolic dysfunction-associated steatohepatitis , Metabolic Syndrome , obesity , Phosphoenolpyruvate Carboxykinase Deficiency , Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic , type 2 diabetes mellitus Pck2 Brain-Lung-Thyroid Syndrome , COVID-19 , Endotoxemia , Experimental Liver Cirrhosis , genetic disease , Hypoxia , lysinuric protein intolerance , Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial , Specific Granule Deficiency Pdha1 autistic disorder , Coffin-Lowry syndrome , developmental and epileptic encephalopathy 2 , Disease Progression , epilepsy , genetic disease , glycogen storage disease IXA , lactic acidosis , Leigh Syndrome, X-Linked , mitochondrial metabolism disease , Myocardial Ischemia , Nance-Horan syndrome , Neurodevelopmental Disorders , osteoarthritis , Prostatic Neoplasms , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1 Alpha Deficiency , Pyruvate Metabolism, Inborn Errors , Stomach Neoplasms , sudden infant death syndrome , syndromic X-linked intellectual disability Lubs type Pdha2 azoospermia , genetic disease , spermatogenic failure 1 , Spermatogenic Failure 70 Pdhb epilepsy , genetic disease , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1-Beta Deficiency , Pyruvate Dehydrogenase Phosphatase Deficiency , renal cell carcinoma Pdhx genetic disease , intellectual disability , Leigh Syndrome, X-Linked , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1 Alpha Deficiency , Pyruvate Dehydrogenase E3-Binding Protein Deficiency , sarcoma Pdk1 genetic disease , split hand-foot malformation 5 Pdk2 cardiomyopathy , genetic disease , osteogenesis imperfecta type 1 , trichodontoosseous syndrome Pdk3 autistic disorder , Charcot-Marie-Tooth disease , Charcot-Marie-Tooth disease X-linked dominant 6 , developmental and epileptic encephalopathy 1 , genetic disease , Neurodevelopmental Disorders , syndromic X-linked intellectual disability Lubs type Pdk4 Chemical and Drug Induced Liver Injury , Experimental Diabetes Mellitus , genetic disease , hepatocellular carcinoma , metabolic dysfunction-associated steatotic liver disease , Myocardial Ischemia , pleomorphic xanthoastrocytoma , prostate cancer Pdp1 genetic disease , Joubert syndrome 1 , obesity , Prostatic Neoplasms , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase Phosphatase Deficiency Pdp2 autosomal dominant dyskeratosis congenita 6 , cataract 5 multiple types , Experimental Diabetes Mellitus , genetic disease , prostate cancer Pklr Burns , Charcot-Marie-Tooth disease type 2 , congenital nonspherocytic hemolytic anemia , Elevated Adenosine Triphosphate of Erythrocytes , Experimental Diabetes Mellitus , Experimental Liver Cirrhosis , gastrointestinal stromal tumor , Gaucher's disease , genetic disease , hemolytic anemia , hyperglycemia , hyperinsulinism , Hypertriglyceridemia , immunodeficiency 42 , Insulin Resistance , malaria , metabolic dysfunction-associated steatotic liver disease , MHC class II deficiency , obesity , parathyroid carcinoma , pyruvate kinase deficiency of red cells , Reperfusion Injury , severe congenital neutropenia 3 , severe congenital neutropenia 5 , type 2 diabetes mellitus Pkm Animal Mammary Neoplasms , Bloom syndrome , carcinoma , colorectal cancer , COVID-19 , Experimental Mammary Neoplasms , genetic disease , hepatocellular carcinoma , hypertension , lymphangioleiomyomatosis , Neoplasm Invasiveness , osteoporosis , Tay-Sachs disease
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Acat2 Acetyl-Coa Carboxylase Deficiency Acaca acromesomelic dysplasia, Maroteaux type Grhpr Acute Alcohol Sensitivity Aldh2 Acute Coronary Syndrome Ldhb Acute Liver Failure Ldha , Mdh1 acute promyelocytic leukemia Me1 adult respiratory distress syndrome Akr1b1 , Mdh1 adult-onset autosomal dominant demyelinating leukodystrophy Aldh7a1 Aicardi-Goutieres Syndrome 3 Pc Albuminuria Akr1b1 alcohol dependence Aldh2 alcohol use disorder Aldh2 alcohol-induced mental disorder Aldh2 Alcoholic Fatty Liver Aldh2 alcoholic liver cirrhosis Aldh2 Alcoholic Liver Diseases Aldh2 allergic disease Akr1b1 Alzheimer's disease Aldh2 , Pck1 AMED syndrome Aldh2 Animal Disease Models Ldha Animal Mammary Neoplasms Mdh2 , Pkm anxiety disorder Glo1 arteriosclerosis Acat1 , Acat2 , Akr1b1 asthma Aldh2 ataxia telangiectasia Acat1 , Dlat atherosclerosis Acaca autism spectrum disorder Acaca , Acacb , Aldh1a1 , Aldh2 , Aldh3a2 autistic disorder Acaca , Aldh3a2 , Glo1 , Pdha1 , Pdk3 autosomal dominant dyskeratosis congenita 6 Pdp2 azoospermia Pdha2 Bardet-Biedl syndrome Mdh1 benign neonatal seizures Aldh7a1 beta-ketothiolase deficiency Acat1 , Acat2 BH4-deficient hyperphenylalaninemia A Dlat bipolar disorder Pc Bloom syndrome Ldhal6b , Pkm bone disease Aldh7a1 brain disease Mdh2 brain infarction Aldh2 brain ischemia Mdh2 Brain-Lung-Thyroid Syndrome Pck2 Breast Neoplasms Acacb , Ldhal6b , Ldhb Burkitt lymphoma Pc Burns Pklr carbohydrate metabolic disorder Acat1 carcinoma Mdh2 , Pkm Cardiac Fibrosis Acacb cardiomyopathy Ldha , Pdk2 Cardiotoxicity Acacb Carney-Stratakis syndrome Dlat cataract Akr1b1 cataract 5 multiple types Pdp2 celiac disease Pck1 Charcot-Marie-Tooth disease Pdk3 Charcot-Marie-Tooth disease type 2 Pklr Charcot-Marie-Tooth disease X-linked dominant 6 Pdk3 Chemical and Drug Induced Liver Injury Aldh2 , Aldh9a1 , Dlat , Mdh1 , Me1 , Pc , Pdk4 cholestasis Aldh1b1 Chromosome 11, Partial Trisomy 11q Acat1 , Dlat chromosome 17q12 deletion syndrome Acaca Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB Mdh2 Chronic Intermittent Hypoxia Pck1 chronic recurrent multifocal osteomyelitis Acyp2 Coffin-Lowry syndrome Pdha1 coloboma Aldh7a1 Colonic Neoplasms Aldh1b1 colorectal cancer Ldhal6b , Pkm Colorectal Neoplasms Aldh2 common variable immunodeficiency 2 Aldh3a2 congenital disorder of glycosylation Il Dlat Congenital Infantile Lactic Acidosis Pc Congenital Infantile Lactic Acidosis due to LAD Deficiency Dld congenital nonspherocytic hemolytic anemia Pklr congestive heart failure Acaca , Mdh2 , Pck1 coronary artery disease Acat2 COVID-19 Aldh9a1 , Grhpr , Ldha , Me1 , Pck2 , Pkm Creutzfeldt-Jakob disease Aldh1a1 Cytosolic Acetoacetyl-CoA Thiolase Deficiency Acat2 depressive disorder Glo1 developmental and epileptic encephalopathy 1 Aldh7a1 , Pdk3 developmental and epileptic encephalopathy 13 Aldh7a1 developmental and epileptic encephalopathy 2 Pdha1 developmental and epileptic encephalopathy 51 Mdh2 developmental and epileptic encephalopathy 88 Mdh1 Developmental Disabilities Acyp1 , Pc Diabetes Complications Akr1b1 , Aldh2 , Glo1 Diabetic Nephropathies Akr1b1 , Glo1 diabetic neuropathy Akr1b1 , Aldh2 diabetic retinopathy Akr1b1 , Glo1 Diastolic Dysfunction Acacb dilated cardiomyopathy 1II Dlat dilated cardiomyopathy 1O Ldhb Disease Progression Aldh7a1 , Pdha1 distal arthrogryposis type 1A Grhpr ductal carcinoma in situ Ldhb early-onset vitamin B6-dependent epilepsy 4 Aldh7a1 Elevated Adenosine Triphosphate of Erythrocytes Pklr end stage renal disease Acat1 , Glo1 Endometrial Neoplasms Akr1b1 endometriosis Akr1b1 Endotoxemia Pck1 , Pck2 Endotoxin-Induced Uveitis Akr1b1 epilepsy Aldh7a1 , Hagh , Pdha1 , Pdhb esophageal cancer Aldh2 Esophageal Neoplasms Aldh2 esophagus squamous cell carcinoma Aldh2 , Glo1 Experimental Diabetes Mellitus Akr1b1 , Pc , Pck1 , Pdk4 , Pdp2 , Pklr Experimental Liver Cirrhosis Acat1 , Akr1b1 , Aldh1a1 , Aldh1b1 , Aldh2 , Hagh , Ldhb , Mdh1 , Pc , Pck1 , Pck2 , Pklr Experimental Mammary Neoplasms Mdh2 , Pkm Experimental Melanoma Acss1 , Acss2 Experimental Neoplasms Ldha exudative vitreoretinopathy 1 Me3 familial adenomatous polyposis 1 Aldh7a1 familial hypocalciuric hypercalcemia Grhpr Fanconi syndrome Ldha Fetal Growth Retardation Pck1 Flushing Aldh2 focal segmental glomerulosclerosis 6 Ldhal6b frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Grhpr galactosemia Akr1b1 , Grhpr gastrointestinal stromal tumor Aldh9a1 , Pklr Gaucher's disease Pklr genetic disease Acaca , Acacb , Acat1 , Acat2 , Acot12 , Acss1 , Acss2 , Acyp1 , Acyp2 , Akr1b1 , Aldh1a1 , Aldh1b1 , Aldh2 , Aldh3a2 , Aldh7a1 , Aldh9a1 , Dlat , Dld , Glo1 , Grhpr , Hagh , Ldha , Ldhal6b , Ldhb , Ldhc , Ldhd , Mdh1 , Mdh2 , Me1 , Me2 , Me3 , Pc , Pck1 , Pck2 , Pdha1 , Pdha2 , Pdhb , Pdhx , Pdk1 , Pdk2 , Pdk3 , Pdk4 , Pdp1 , Pdp2 , Pklr , Pkm Genetic Predisposition to Disease Aldh2 glycogen storage disease IXA Pdha1 Glycogen Storage Disease XI Ldha Glyoxalase II Deficiency Hagh Hearing Loss, Cisplatin-Induced Acyp2 heart disease Aldh2 Heart Injuries Aldh2 hemolytic anemia Pklr Hemorrhagic Shock Aldh1a7 hepatocellular carcinoma Acaca , Akr1b1 , Aldh2 , Aldh7a1 , Me1 , Pck1 , Pdk4 , Pkm Hepatomegaly Aldh1b1 hereditary breast ovarian cancer syndrome Acaca Hereditary Neoplastic Syndromes Aldh7a1 heroin dependence Aldh2 hydrocephalus Aldh7a1 Hyperalgesia Akr1b1 Hypercholesterolemia Acat2 hyperglycemia Akr1b1 , Ldha , Pck1 , Pklr hyperinsulinism Pklr hyperphosphatasia with impaired intellectual development syndrome 5 Acaca hypertension Aldh2 , Ldha , Mdh1 , Pkm Hypertriglyceridemia Acaca , Acacb , Pklr hypertrophic cardiomyopathy Acacb hypertrophic cardiomyopathy 12 Ldha , Ldhc hypokalemia Akr1b1 Hypothermia Acss1 Hypoxia Pck2 idiopathic generalized epilepsy Hagh immunodeficiency 23 Me1 immunodeficiency 42 Pklr immunodeficiency with hyper IgM type 5 Acacb Inflammation Acss2 , Akr1b1 inherited metabolic disorder Ldhb Insulin Resistance Acaca , Acacb , Aldh2 , Pklr intellectual disability Acat1 , Acyp1 , Aldh7a1 , Dlat , Ldha , Ldhc , Me2 , Me3 , Pc , Pdhx Joubert syndrome 1 Aldh3a2 , Pdp1 Kidney Reperfusion Injury Aldh2 , Glo1 Lactate Dehydrogenase B Deficiency Ldhb lactic acidosis Pdha1 Lactic Aciduria due to D-Lactic Acid Ldhd Leigh disease Dld Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency Pc Leigh Syndrome, X-Linked Pdha1 , Pdhx Leukoencephalopathies Aldh7a1 lissencephaly 5 Dld liver cancer Acot12 , Aldh2 liver disease Aldh1a1 , Aldh2 Liver Injury Mdh1 Liver Reperfusion Injury Aldh2 long QT syndrome Acss2 lung adenocarcinoma Ldha lung disease Ldhc lymphangioleiomyomatosis Acss2 , Pkm lysinuric protein intolerance Pck2 macular corneal dystrophy Ldhd malaria Pklr male infertility Aldh2 , Ldhc maple syrup urine disease Dld Meckel Syndrome 9 Aldh3a2 melanoma Aldh1a1 , Glo1 Melanosis Aldh2 metabolic dysfunction-associated steatohepatitis Acaca , Pck1 metabolic dysfunction-associated steatotic liver disease Acaca , Acacb , Aldh1a1 , Aldh1b1 , Aldh2 , Pdk4 , Pklr Metabolic Syndrome Acaca , Acacb , Acat2 , Pck1 MHC class II deficiency Pklr mitochondrial metabolism disease Pdha1 morbid obesity Acss2 myocardial infarction Aldh2 , Ldha , Mdh2 Myocardial Ischemia Akr1b1 , Aldh2 , Dlat , Pdha1 , Pdk4 Myocardial Reperfusion Injury Aldh2 myoglobinuria Ldha Nance-Horan syndrome Pdha1 Neoplasm Invasiveness Ldhb , Pkm Neoplastic Cell Transformation Aldh1a1 nephrocalcinosis Grhpr nephrogenic diabetes insipidus Akr1b1 nephrotic syndrome Acat1 Nervous System Malformations Aldh7a1 Neurodevelopmental Disorders Acaca , Acot12 , Aldh7a1 , Pdha1 , Pdk3 Niemann-Pick disease type C1 Acyp1 Niemann-Pick disease type C2 Acyp1 obesity Acacb , Me1 , Pck1 , Pdp1 , Pklr occupational dermatitis Aldh2 orofacial cleft Acss2 osteoarthritis Pdha1 osteogenesis imperfecta type 1 Pdk2 osteoporosis Pkm ovarian carcinoma Mdh2 pancreatic cancer Aldh1a1 , Aldh2 , Ldha paraplegia Ldhd parathyroid carcinoma Aldh9a1 , Pklr Parkinson's disease Aldh2 Parkinsonism Aldh1a1 perinatal necrotizing enterocolitis Aldh2 Phosphoenolpyruvate Carboxykinase Deficiency Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Pck2 pleomorphic xanthoastrocytoma Akr1b1 , Dld , Mdh2 , Pdk4 Potocki-Lupski syndrome Aldh3a2 pre-malignant neoplasm Aldh2 premature menopause Acat2 primary ciliary dyskinesia Grhpr primary hyperoxaluria Grhpr primary hyperoxaluria type 2 Grhpr progressive myoclonus epilepsy 7 Ldha , Ldhc prostate cancer Aldh9a1 , Dlat , Pdk4 , Pdp2 Prostatic Neoplasms Grhpr , Ldhb , Pdha1 , Pdp1 pyridoxine-dependent epilepsy Aldh7a1 pyruvate carboxylase deficiency disease Pc pyruvate decarboxylase deficiency Dld , Pdha1 , Pdhb , Pdhx , Pdp1 Pyruvate Dehydrogenase E1 Alpha Deficiency Pdha1 , Pdhx Pyruvate Dehydrogenase E1-Beta Deficiency Pdhb Pyruvate Dehydrogenase E2 Deficiency Dlat Pyruvate Dehydrogenase E3-Binding Protein Deficiency Pdhx Pyruvate Dehydrogenase Phosphatase Deficiency Pdhb , Pdp1 pyruvate kinase deficiency of red cells Pklr Pyruvate Metabolism, Inborn Errors Pdha1 Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations Pc renal cell carcinoma Aldh1a1 , Ldhb , Pdhb Reperfusion Injury Pklr Right Ventricular Hypertrophy Me1 , Me2 sarcoma Pdhx schizophrenia Acaca Sepsis Aldh2 severe congenital neutropenia 3 Pklr severe congenital neutropenia 5 Pklr short-rib thoracic dysplasia 9 with or without polydactyly Hagh Sjogren-Larsson syndrome Aldh3a2 Sleep Deprivation Dlat Specific Granule Deficiency Pck2 spermatogenic failure 1 Pdha2 Spermatogenic Failure 70 Pdha2 split hand-foot malformation 5 Pdk1 steatotic liver disease Acaca , Acacb , Acat1 stomach cancer Akr1b1 Stomach Neoplasms Aldh7a1 , Pdha1 Subacute Necrotizing Encephalopathy of Leigh, Infantile Dld sudden infant death syndrome Pdha1 syndromic X-linked intellectual disability Lubs type Pdha1 , Pdk3 Tay-Sachs disease Pkm trichodontoosseous syndrome Pdk2 tuberous sclerosis 2 Hagh type 1 diabetes mellitus Aldh2 type 2 diabetes mellitus Akr1b1 , Aldh2 , Glo1 , Pc , Pck1 , Pklr vascular disease Aldh2 , Glo1 Ventricular Dysfunction Aldh2 Ventriculomegaly Aldh7a1 visual epilepsy Aldh7a1 Weight Gain Me1
