CITRIC ACID CYCLE PATHWAY (PW:0000026)
Description
The
citric acid cycle, also known as the Krebs or tricarboxylic acid cycle (TCA), is considered
a hub of cellular fuel metabolism. It consists of a series of eight reactions
that oxidize the acetyl group of acetyl-CoA - the only precursor of the cycle -
to two molecules of CO2 while conserving the liberated energy in the
reduced NADH and FADH2 compounds. The stored electrons are passed to oxygen via the electron transport chain and the generated electrochemical gradient is used to drive the ATP synthesis.
The acetyl-CoA necessary to initiate the cycle is derived from pyruvate or from
fatty acids and amino acid degradation. The cycle intermediates can also be
derived from or fueled into other pathways. Oxaloacetate, alpha-ketoglutarate,
succinyl-CoA and fumarate can be derived from the degradation of various amino
acids. Oxaloacetate can be used for the biosynthesis of glucose and amino
acids, alpha-ketoglutarate for the biosynthesis of amino acids and citrate
provides the source for the cytosolic acetyl CoA in the fatty acids
biosynthetic pathway. One round of the cycle gives rise to three molecules of
NADH and one of FADH
2 (colored gold and as applicable, numbered); there
is also one molecule of GTP or ATP produced (not shown). The oxaloacetate
consumed in the first step is regenerated in the last step; the cycle can go on
for as long as there are acetyl groups available. One turn of the cycle
generates ~10 ATP molecules. Glucose oxidation requires two rounds of the cycle
(glycolysis yields two pyruvate molecules whose oxidation produces two acetyl-CoAs).
More rounds of the TCA cycle are necessary
to complete oxidation of fatty acids since their carbon skeletons are larger than that
of glucose. The flux of the cycle is controlled by the availability of
substrates, product inhibition and competitive feedback inhibition. The cycle takes
place in the mitochondrion. Since the metabolites are present in both
mitochondria and cytosol, the identification of rate-limiting steps is more
difficult. The estimated free energy changes for the reactions point to three
enzymes likely to function far from equilibrium: citrate synthase (step 1),
isocitrate dehydrogenase (step 3) and oxoglutarate dehydrogenase (step 4) - the
unidirectional reaction arrows in the diagram.
Click to get to the entry for the molecule of the month, October 2012, at the Protein Data Bank which is dedicated to the structures of proteins/complexes in the eight reactions of the cycle. To see the ontology report for annotations, GViewer and download, click
here [click
to see the ontology report for associated GO term -
GO:0006099 , KEGG map -
map00020 and related entry at Reactome - REACT_1046.3 ]...(less)
Pathway Diagram:
Genes in Pathway:
G
Acly
ATP citrate lyase
IEA
KEGG rno:00020
NCBI chr10:85,912,402...85,964,605
G
Aco1
aconitase 1
IEA
KEGG rno:00020
NCBI chr 5:60,055,895...60,111,920
G
Aco2
aconitase 2
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 7:115,265,816...115,308,931
G
Cs
citrate synthase
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 7:1,348,389...1,374,624
G
Dlat
dihydrolipoamide S-acetyltransferase
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 8:59,875,537...59,900,947
G
Dld
dihydrolipoamide dehydrogenase
ISO IEA
SMPDB KEGG PMID:10672230 SMP:00057 rno:00020, RGD:2306878
NCBI chr 6:53,631,686...53,655,059
G
Dlst
dihydrolipoamide S-succinyltransferase
ISO IEA
SMPDB KEGG PMID:10672230 SMP:00057 rno:00020, RGD:2306878
NCBI chr 6:110,489,576...110,512,841
G
Fh
fumarate hydratase
ISO
SMPDB SMP:00057
NCBI chr13:90,056,565...90,082,450
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
IEA
KEGG rno:00020
NCBI chr 9:74,027,887...74,057,442
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
IEA
KEGG rno:00020
NCBI chr 1:143,447,925...143,467,248
G
Idh3a
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 8:63,867,882...63,887,223
G
Idh3b
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 3:137,934,971...137,940,275
G
Idh3g
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr X:156,666,573...156,675,482
G
Mdh1
malate dehydrogenase 1
IEA
KEGG rno:00020
NCBI chr14:99,831,934...99,847,227
G
Mdh2
malate dehydrogenase 2
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr12:26,530,886...26,543,841
G
Mpc1
mitochondrial pyruvate carrier 1
ISO
SMPDB SMP:00057
NCBI chr 1:54,985,305...54,996,979
G
Ogdh
oxoglutarate dehydrogenase
ISO IEA
SMPDB KEGG PMID:10672230 SMP:00057 rno:00020, RGD:2306878
NCBI chr14:85,363,949...85,431,405
G
Ogdhl
oxoglutarate dehydrogenase L
IEA
KEGG rno:00020
NCBI chr16:7,584,666...7,610,705
G
Pc
pyruvate carboxylase
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr 1:211,228,708...211,327,792
G
Pck1
phosphoenolpyruvate carboxykinase 1
IEA
KEGG rno:00020
NCBI chr 3:182,348,572...182,354,521
G
Pck2
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
IEA
KEGG rno:00020
NCBI chr15:32,997,853...33,006,691
G
Pdha1
pyruvate dehydrogenase E1 subunit alpha 1
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr X:38,509,158...38,522,986
G
Pdha2
pyruvate dehydrogenase E1 subunit alpha 2
IEA
KEGG rno:00020
NCBI chr 2:232,545,550...232,547,098
G
Pdhb
pyruvate dehydrogenase E1 subunit beta
IEA ISO
KEGG SMPDB SMP:00057 rno:00020
NCBI chr15:19,182,789...19,188,731
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO IEA
SMPDB KEGG PMID:16143825 SMP:00057 rno:00020, RGD:2306881
NCBI chr 1:30,764,553...30,789,523
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO IEA
SMPDB KEGG PMID:16143825 SMP:00057 rno:00020, RGD:2306881
NCBI chr 5:158,547,775...158,568,589
G
Sdhc
succinate dehydrogenase complex subunit C
ISO IEA
SMPDB KEGG PMID:16143825 SMP:00057 rno:00020, RGD:2306881
NCBI chr13:86,077,133...86,098,025
G
Sdhd
succinate dehydrogenase complex subunit D
ISO IEA
SMPDB KEGG PMID:16143825 SMP:00057 rno:00020, RGD:2306881
NCBI chr 8:59,841,090...59,850,641
G
Sucla2
succinate-CoA ligase ADP-forming subunit beta
IDA IEA
KEGG PMID:17403370 rno:00020, RGD:2306915
NCBI chr15:55,161,894...55,215,031
G
Suclg1
succinate-CoA ligase GDP/ADP-forming subunit alpha
IDA ISO IEA
SMPDB KEGG PMID:17403370 SMP:00057 rno:00020, RGD:2306915
NCBI chr 4:106,866,329...106,895,686
G
Suclg2
succinate-CoA ligase GDP-forming subunit beta
IDA ISO IEA
SMPDB KEGG PMID:17403370 SMP:00057 rno:00020, RGD:2306915
NCBI chr 4:129,623,833...129,893,937
G
Fh
fumarate hydratase
ISO
RGD
PMID:17211469 RGD:6907135
NCBI chr13:90,056,565...90,082,450
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
RGD
PMID:21771581 RGD:6907134
NCBI chr 5:158,547,775...158,568,589
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
RGD
PMID:21771581 RGD:6907134
NCBI chr 8:59,841,090...59,850,641
Pathway Gene Annotations
Disease Annotations Associated with Genes in the citric acid cycle pathway
Acly congestive heart failure , hepatocellular carcinoma , obesity Aco1 Chronic Allograft Nephropathy , Chronic Cerebral Hypoperfusion , duodenal ulcer , metabolic dysfunction-associated steatotic liver disease , Neoplasm Invasiveness , osteoarthritis Aco2 acute intermittent porphyria , adult respiratory distress syndrome , COVID-19 , Developmental Disabilities , fundus dystrophy , genetic disease , hepatocellular carcinoma , infantile cerebellar-retinal degeneration , mitochondrial metabolism disease , optic atrophy , optic atrophy 9 , retinitis pigmentosa 1 Cs atrial fibrillation , bipolar disorder , Brain Hypoxia-Ischemia , Cardiomegaly , cardiomyopathy , Chronic Allograft Nephropathy , congestive heart failure , dilated cardiomyopathy , Endotoxemia , Experimental Diabetes Mellitus , hyperthyroidism , hypertrophic cardiomyopathy , hypothyroidism , Hypoxia , left ventricular failure , limb ischemia , Liver Reperfusion Injury , myocardial infarction , obesity , Sepsis Dlat Chemical and Drug Induced Liver Injury , genetic disease , Leigh disease , Myocardial Ischemia , prostate cancer , Pyruvate Dehydrogenase E2 Deficiency , Sleep Deprivation Dld dihydrolipoamide dehydrogenase deficiency , genetic disease , lactic acidosis , Leigh disease , maple syrup urine disease , pyruvate decarboxylase deficiency Dlst Alzheimer's disease , Hereditary Paraganglioma-Pheochromocytoma Syndromes , oxoglutarate dehydrogenase deficiency , paraganglioma , pheochromocytoma/paraganglioma syndrome 7 Fh B-lymphoblastic leukemia/lymphoma , breast cancer , COVID-19 , fumarase deficiency , hepatoblastoma , hepatocellular carcinoma , Hereditary Leiomyomatosis and Renal Cell Cancer , Hereditary Neoplastic Syndromes , leiomyoma cutis , lung non-small cell carcinoma , microcephaly , ovarian cancer , renal cell carcinoma , spinocerebellar ataxia 45 , uterine fibroid Idh1 Acute Liver Failure , acute lymphoblastic leukemia , acute myeloid leukemia , acute promyelocytic leukemia , adenoid cystic carcinoma , autoimmune disease , Brain Neoplasms , Breast Neoplasms , cholangiocarcinoma , Cholangiofibrosis , chondroma , COVID-19 , Desbuquois dysplasia , diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype , glioblastoma , hemangioma , hepatocellular carcinoma , hepatocellular clear cell carcinoma , high grade glioma , intrahepatic cholangiocarcinoma , lung adenocarcinoma , lung squamous cell carcinoma , lymphoma , Maffucci syndrome , myelodysplastic syndrome , Neoplasm Recurrence, Local , obesity , oligodendroglioma , Ollier disease , paroxysmal extreme pain disorder , prostate adenocarcinoma , Prostatic Neoplasms , skin melanoma Idh2 2-hydroxyglutaric aciduria , acute myeloid leukemia , acute myocardial infarction , acute promyelocytic leukemia , Animal Disease Models , bone remodeling disease , Cardiomegaly , central nervous system disease , Chemical and Drug Induced Liver Injury , cholangiocarcinoma , chondroma , Craniofacial Abnormalities , D-2-hydroxyglutaric aciduria , D-2-hydroxyglutaric aciduria 2 , Desbuquois dysplasia , esophagus squamous cell carcinoma , genetic disease , Growth Disorders , hemangioma , hepatocellular carcinoma , hepatocellular clear cell carcinoma , hydronephrosis , hypertrophic cardiomyopathy , Immunoblastic Lymphadenopathy , intrahepatic cholangiocarcinoma , kidney failure , left ventricular failure , Liver Reperfusion Injury , lung adenocarcinoma , lung cancer , lung non-small cell carcinoma , lung squamous cell carcinoma , Maffucci syndrome , metabolic dysfunction-associated steatohepatitis , metabolic dysfunction-associated steatotic liver disease , Metabolic Syndrome , mitochondrial metabolism disease , myelodysplastic syndrome , Neoplasm Recurrence, Local , oligodendroglioma , Ollier disease , osteoarthritis , osteoporosis , peripheral T-cell lymphoma , status epilepticus , stomach cancer , teratoma , Vascular Malformations Idh3a fundus dystrophy , osteoarthritis , retinitis pigmentosa , retinitis pigmentosa 1 , retinitis pigmentosa 90 Idh3b Disease Progression , fundus dystrophy , optic atrophy , retinitis pigmentosa , retinitis pigmentosa 1 , retinitis pigmentosa 46 , Stomach Neoplasms Idh3g Emery-Dreifuss muscular dystrophy , retinitis pigmentosa 99 , spastic quadriplegic cerebral palsy Mdh1 Acute Liver Failure , adult respiratory distress syndrome , Chemical and Drug Induced Liver Injury , developmental and epileptic encephalopathy 88 , Experimental Liver Cirrhosis , hypertension , Liver Injury Mdh2 Animal Mammary Neoplasms , brain disease , brain ischemia , carcinoma , congestive heart failure , developmental and epileptic encephalopathy 1 , developmental and epileptic encephalopathy 51 , Experimental Mammary Neoplasms , genetic disease , myocardial infarction , ovarian carcinoma Mpc1 Fraser syndrome 3 , mitochondrial pyruvate carrier deficiency , substance-related disorder Ogdh Chemical and Drug Induced Liver Injury , oxoglutarate dehydrogenase deficiency Ogdhl congestive heart failure , depressive disorder , genetic disease , Yoon-Bellen neurodevelopmental syndrome Pc 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 , 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 COVID-19 , Endotoxemia , Experimental Liver Cirrhosis , Hypoxia , Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Pdha1 Disease Progression , epilepsy , genetic disease , lactic acidosis , Leigh Syndrome, X-Linked , mitochondrial metabolism disease , Myocardial Ischemia , Neurodevelopmental Disorders , osteoarthritis , Prostatic Neoplasms , pyruvate decarboxylase deficiency , Pyruvate Dehydrogenase E1 Alpha Deficiency , Pyruvate Metabolism, Inborn Errors , Stomach Neoplasms , sudden infant death syndrome Pdha2 azoospermia , 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 Sdha B-lymphoblastic leukemia/lymphoma with hypodiploidy , Brain Neoplasms , Breast Cancer, Familial , Carney Triad , diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype , dilated cardiomyopathy , dilated cardiomyopathy 1GG , gastrointestinal stromal tumor , Hereditary Neoplastic Syndromes , Hereditary Paraganglioma-Pheochromocytoma Syndromes , hereditary renal cell carcinoma , Infantile Polymyoclonus , Leigh disease , lung non-small cell carcinoma , mitochondrial complex II deficiency , Mitochondrial Complex II Deficiency Nuclear Type 1 , multiple endocrine neoplasia type 2A , muscular disease , myopathy , Neurodegeneration with Ataxia and Late-Onset Optic Atrophy , Opsoclonus-Myoclonus Syndrome , osteoarthritis , paraganglioma , Parkinson's disease , Peritoneal Adhesions , pheochromocytoma , pheochromocytoma/paraganglioma syndrome 1 , pheochromocytoma/paraganglioma syndrome 3 , pheochromocytoma/paraganglioma syndrome 4 , pheochromocytoma/paraganglioma syndrome 5 , pilocytic astrocytoma , Pulmonary Atresia , rhabdomyosarcoma Sdhb acute myocardial infarction , bilateral breast cancer , breast cancer , Carney Triad , Carney-Stratakis syndrome , Carotid Body Tumor , Cowden syndrome , Cowden syndrome 1 , gastrointestinal stromal tumor , Hereditary Neoplastic Syndromes , Hereditary Paraganglioma-Pheochromocytoma Syndromes , Kidney Neoplasms , mitochondrial complex II deficiency , Mitochondrial Complex II Deficiency Nuclear Type 1 , Mitochondrial Complex II Deficiency Nuclear Type 4 , Nijmegen breakage syndrome , ovarian cancer , paraganglioma , pheochromocytoma , pheochromocytoma/paraganglioma syndrome 3 , pheochromocytoma/paraganglioma syndrome 4 , renal cell carcinoma , Renal Cell Carcinoma 1 , type 2 diabetes mellitus , von Hippel-Lindau disease Sdhc breast cancer , Carney Triad , Carney-Stratakis syndrome , Cowden syndrome , gastrointestinal stromal tumor , Hereditary Neoplastic Syndromes , Hereditary Paraganglioma-Pheochromocytoma Syndromes , Leigh disease , lung non-small cell carcinoma , neuroblastoma , ovarian cancer , paraganglioma , pheochromocytoma , pheochromocytoma/paraganglioma syndrome 3 , rhabdomyosarcoma Sdhd Carney-Stratakis syndrome , combined oxidative phosphorylation deficiency 8 , COVID-19 , Cowden syndrome , Glomus Jugulare Tumor , Hereditary Neoplastic Syndromes , Hereditary Paraganglioma-Pheochromocytoma Syndromes , Intestinal Carcinoid Tumors , melanoma , microcephaly , mitochondrial complex II deficiency , Mitochondrial Complex II Deficiency Nuclear Type 1 , Mitochondrial Complex II Deficiency Nuclear Type 3 , paraganglioma , Paragangliomas with Sensorineural Hearing Loss , pheochromocytoma , pheochromocytoma/paraganglioma syndrome 1 , pheochromocytoma/paraganglioma syndrome 3 , pheochromocytoma/paraganglioma syndrome 4 , renal cell carcinoma Sucla2 Developmental Disabilities , genetic disease , mitochondrial DNA depletion syndrome , mitochondrial DNA depletion syndrome 5 , obesity Suclg1 Disease Progression , genetic disease , mitochondrial DNA depletion syndrome , mitochondrial DNA depletion syndrome 9 , Stomach Neoplasms Suclg2 Animal Disease Models , endometriosis , lung adenocarcinoma , methylmalonic acidemia , mitochondrial DNA depletion syndrome 9 , obesity
2-hydroxyglutaric aciduria Idh2 acute intermittent porphyria Aco2 Acute Liver Failure Idh1 , Mdh1 acute lymphoblastic leukemia Idh1 acute myeloid leukemia Idh1 , Idh2 acute myocardial infarction Idh2 , Sdhb acute promyelocytic leukemia Idh1 , Idh2 adenoid cystic carcinoma Idh1 adult respiratory distress syndrome Aco2 , Mdh1 Alzheimer's disease Dlst , Pck1 Animal Disease Models Idh2 , Suclg2 Animal Mammary Neoplasms Mdh2 atrial fibrillation Cs autoimmune disease Idh1 azoospermia Pdha2 B-lymphoblastic leukemia/lymphoma Fh B-lymphoblastic leukemia/lymphoma with hypodiploidy Sdha bilateral breast cancer Sdhb bipolar disorder Cs , Pc bone remodeling disease Idh2 brain disease Mdh2 Brain Hypoxia-Ischemia Cs brain ischemia Mdh2 Brain Neoplasms Idh1 , Sdha breast cancer Fh , Sdhb , Sdhc Breast Cancer, Familial Sdha Breast Neoplasms Idh1 Burkitt lymphoma Pc carcinoma Mdh2 Cardiomegaly Cs , Idh2 cardiomyopathy Cs Carney Triad Sdha , Sdhb , Sdhc Carney-Stratakis syndrome Sdhb , Sdhc , Sdhd Carotid Body Tumor Sdhb celiac disease Pck1 central nervous system disease Idh2 Chemical and Drug Induced Liver Injury Dlat , Idh2 , Mdh1 , Ogdh , Pc cholangiocarcinoma Idh1 , Idh2 Cholangiofibrosis Idh1 chondroma Idh1 , Idh2 Chronic Allograft Nephropathy Aco1 , Cs Chronic Cerebral Hypoperfusion Aco1 Chronic Intermittent Hypoxia Pck1 combined oxidative phosphorylation deficiency 8 Sdhd Congenital Infantile Lactic Acidosis Pc congestive heart failure Acly , Cs , Mdh2 , Ogdhl , Pck1 COVID-19 Aco2 , Fh , Idh1 , Pck2 , Sdhd Cowden syndrome Sdhb , Sdhc , Sdhd Cowden syndrome 1 Sdhb Craniofacial Abnormalities Idh2 D-2-hydroxyglutaric aciduria Idh2 D-2-hydroxyglutaric aciduria 2 Idh2 depressive disorder Ogdhl Desbuquois dysplasia Idh1 , Idh2 developmental and epileptic encephalopathy 1 Mdh2 developmental and epileptic encephalopathy 51 Mdh2 developmental and epileptic encephalopathy 88 Mdh1 Developmental Disabilities Aco2 , Pc , Sucla2 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Idh1 , Sdha dihydrolipoamide dehydrogenase deficiency Dld dilated cardiomyopathy Cs , Sdha dilated cardiomyopathy 1GG Sdha Disease Progression Idh3b , Pdha1 , Suclg1 duodenal ulcer Aco1 Emery-Dreifuss muscular dystrophy Idh3g endometriosis Suclg2 Endotoxemia Cs , Pck1 , Pck2 epilepsy Pdha1 , Pdhb esophagus squamous cell carcinoma Idh2 Experimental Diabetes Mellitus Cs , Pc , Pck1 Experimental Liver Cirrhosis Mdh1 , Pc , Pck1 , Pck2 Experimental Mammary Neoplasms Mdh2 Fetal Growth Retardation Pck1 Fraser syndrome 3 Mpc1 fumarase deficiency Fh fundus dystrophy Aco2 , Idh3a , Idh3b gastrointestinal stromal tumor Sdha , Sdhb , Sdhc genetic disease Aco2 , Dlat , Dld , Idh2 , Mdh2 , Ogdhl , Pc , Pck1 , Pdha1 , Pdhb , Sucla2 , Suclg1 glioblastoma Idh1 Glomus Jugulare Tumor Sdhd Growth Disorders Idh2 hemangioma Idh1 , Idh2 hepatoblastoma Fh hepatocellular carcinoma Acly , Aco2 , Fh , Idh1 , Idh2 , Pck1 hepatocellular clear cell carcinoma Idh1 , Idh2 Hereditary Leiomyomatosis and Renal Cell Cancer Fh Hereditary Neoplastic Syndromes Fh , Sdha , Sdhb , Sdhc , Sdhd Hereditary Paraganglioma-Pheochromocytoma Syndromes Dlst , Sdha , Sdhb , Sdhc , Sdhd hereditary renal cell carcinoma Sdha high grade glioma Idh1 hydronephrosis Idh2 hyperglycemia Pck1 hypertension Mdh1 hyperthyroidism Cs hypertrophic cardiomyopathy Cs , Idh2 hypothyroidism Cs Hypoxia Cs , Pck2 Immunoblastic Lymphadenopathy Idh2 infantile cerebellar-retinal degeneration Aco2 Infantile Polymyoclonus Sdha intellectual disability Pc Intestinal Carcinoid Tumors Sdhd intrahepatic cholangiocarcinoma Idh1 , Idh2 kidney failure Idh2 Kidney Neoplasms Sdhb lactic acidosis Dld , Pdha1 left ventricular failure Cs , Idh2 Leigh disease Dlat , Dld , Sdha , Sdhc Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency Pc Leigh Syndrome, X-Linked Pdha1 leiomyoma cutis Fh limb ischemia Cs Liver Injury Mdh1 Liver Reperfusion Injury Cs , Idh2 lung adenocarcinoma Idh1 , Idh2 , Suclg2 lung cancer Idh2 lung non-small cell carcinoma Fh , Idh2 , Sdha , Sdhc lung squamous cell carcinoma Idh1 , Idh2 lymphoma Idh1 Maffucci syndrome Idh1 , Idh2 maple syrup urine disease Dld melanoma Sdhd metabolic dysfunction-associated steatohepatitis Idh2 , Pck1 metabolic dysfunction-associated steatotic liver disease Aco1 , Idh2 Metabolic Syndrome Idh2 , Pck1 methylmalonic acidemia Suclg2 microcephaly Fh , Sdhd mitochondrial complex II deficiency Sdha , Sdhb , Sdhd Mitochondrial Complex II Deficiency Nuclear Type 1 Sdha , Sdhb , Sdhd Mitochondrial Complex II Deficiency Nuclear Type 3 Sdhd Mitochondrial Complex II Deficiency Nuclear Type 4 Sdhb mitochondrial DNA depletion syndrome Sucla2 , Suclg1 mitochondrial DNA depletion syndrome 5 Sucla2 mitochondrial DNA depletion syndrome 9 Suclg1 , Suclg2 mitochondrial metabolism disease Aco2 , Idh2 , Pdha1 mitochondrial pyruvate carrier deficiency Mpc1 multiple endocrine neoplasia type 2A Sdha muscular disease Sdha myelodysplastic syndrome Idh1 , Idh2 myocardial infarction Cs , Mdh2 Myocardial Ischemia Dlat , Pdha1 myopathy Sdha Neoplasm Invasiveness Aco1 Neoplasm Recurrence, Local Idh1 , Idh2 neuroblastoma Sdhc Neurodegeneration with Ataxia and Late-Onset Optic Atrophy Sdha Neurodevelopmental Disorders Pdha1 Nijmegen breakage syndrome Sdhb obesity Acly , Cs , Idh1 , Pck1 , Sucla2 , Suclg2 oligodendroglioma Idh1 , Idh2 Ollier disease Idh1 , Idh2 Opsoclonus-Myoclonus Syndrome Sdha optic atrophy Aco2 , Idh3b optic atrophy 9 Aco2 osteoarthritis Aco1 , Idh2 , Idh3a , Pdha1 , Sdha osteoporosis Idh2 ovarian cancer Fh , Sdhb , Sdhc ovarian carcinoma Mdh2 oxoglutarate dehydrogenase deficiency Dlst , Ogdh paraganglioma Dlst , Sdha , Sdhb , Sdhc , Sdhd Paragangliomas with Sensorineural Hearing Loss Sdhd Parkinson's disease Sdha paroxysmal extreme pain disorder Idh1 peripheral T-cell lymphoma Idh2 Peritoneal Adhesions Sdha pheochromocytoma Sdha , Sdhb , Sdhc , Sdhd pheochromocytoma/paraganglioma syndrome 1 Sdha , Sdhd pheochromocytoma/paraganglioma syndrome 3 Sdha , Sdhb , Sdhc , Sdhd pheochromocytoma/paraganglioma syndrome 4 Sdha , Sdhb , Sdhd pheochromocytoma/paraganglioma syndrome 5 Sdha pheochromocytoma/paraganglioma syndrome 7 Dlst Phosphoenolpyruvate Carboxykinase Deficiency Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic Pck1 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial Pck2 pilocytic astrocytoma Sdha prostate adenocarcinoma Idh1 prostate cancer Dlat Prostatic Neoplasms Idh1 , Pdha1 Pulmonary Atresia Sdha pyruvate carboxylase deficiency disease Pc pyruvate decarboxylase deficiency Dld , Pdha1 , Pdhb Pyruvate Dehydrogenase E1 Alpha Deficiency Pdha1 Pyruvate Dehydrogenase E1-Beta Deficiency Pdhb Pyruvate Dehydrogenase E2 Deficiency Dlat Pyruvate Dehydrogenase Phosphatase Deficiency Pdhb Pyruvate Metabolism, Inborn Errors Pdha1 renal cell carcinoma Fh , Pdhb , Sdhb , Sdhd Renal Cell Carcinoma 1 Sdhb retinitis pigmentosa Idh3a , Idh3b retinitis pigmentosa 1 Aco2 , Idh3a , Idh3b retinitis pigmentosa 46 Idh3b retinitis pigmentosa 90 Idh3a retinitis pigmentosa 99 Idh3g rhabdomyosarcoma Sdha , Sdhc Sepsis Cs skin melanoma Idh1 Sleep Deprivation Dlat spastic quadriplegic cerebral palsy Idh3g spermatogenic failure 1 Pdha2 spermatogenic failure 70 Pdha2 spinocerebellar ataxia 45 Fh status epilepticus Idh2 stomach cancer Idh2 Stomach Neoplasms Idh3b , Pdha1 , Suclg1 substance-related disorder Mpc1 sudden infant death syndrome Pdha1 teratoma Idh2 type 2 diabetes mellitus Pc , Pck1 , Sdhb uterine fibroid Fh Vascular Malformations Idh2 von Hippel-Lindau disease Sdhb Yoon-Bellen neurodevelopmental syndrome Ogdhl
