Page last updated: 2024-09-28

Pyruvate Metabolism, Inborn Errors

Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders.

Synonyms(1)

Synonym
Pyruvate Metabolism, Inborn Errors

Research

Studies (29)

TimeframeStudies, This Condition (%)All Conditions %
pre-19904 (13.79)23.3326
1990's4 (13.79)12.5806
2000's1 (3.45)18.1394
2010's13 (44.83)28.8240
2020's7 (24.14)9.53
DrugIndicatedRelationship StrengthStudiesTrials
ammonium hydroxide0low10
3-hydroxybutyric acid0low10
thioctic acid0low20
pyruvic acid0low10
deferoxamine0low10
ketamine0low10
methylphenidate0low10
dichloroacetic acid0low10
biotin0medium11
isomethyleugenol0low10
dexmedetomidine0low10
vitamin b 120low20
folic acid0low20

Protein Targets (203)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Protein skinhead-10101
Monocarboxylate transporter 20202
Solute carrier family 22 member 200202
Solute carrier family 22 member 60202
Chain A, Avidin0011
Chain A, Protein (streptavidin)0011
Chain B, Protein (streptavidin)0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin0011
Chain D, Streptavidin0011
Chain A, Streptavidin Complex With Biotin0011
Chain D, Circularly Permuted Core-streptavidin E51/a460011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Core-streptavidin0011
Chain D, Core-streptavidin0011
Chain A, Avidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, Streptavidin0011
Chain B, Streptavidin0011
Chain A, JmjC domain-containing histone demethylation protein 3A1001
RAR-related orphan receptor gamma2002
apical membrane antigen 1, AMA12002
nonstructural protein 10101
estrogen nuclear receptor alpha5005
green fluorescent protein, partial0101
vitamin D3 receptor isoform VDRA1001
insulin-degrading enzyme isoform 10011
Streptavidin0011
Receptor-type tyrosine-protein phosphatase beta0001
TDP1 protein1001
67.9K protein1001
IDH11001
nuclear factor erythroid 2-related factor 2 isoform 23003
DNA polymerase iota isoform a (long)1001
urokinase-type plasminogen activator precursor1001
plasminogen precursor1001
urokinase plasminogen activator surface receptor precursor1001
geminin3003
Lysine-specific demethylase 4A0101
Guanine nucleotide-binding protein G1001
Hypoxia-inducible factor 1-alpha0011
Methylcytosine dioxygenase TET20101
Deoxyhypusine hydroxylase0101
thyroid stimulating hormone receptor3003
euchromatic histone-lysine N-methyltransferase 22002
Alpha-1B adrenergic receptor 0011
cytochrome P450 2D6 isoform 11001
cellular tumor antigen p53 isoform a1001
cytochrome P450 2C19 precursor1001
cytochrome P450 2C9 precursor1001
peripheral myelin protein 221001
cytochrome P450 3A4 isoform 11001
Gamma-aminobutyric acid receptor subunit pi1001
Alpha-2A adrenergic receptor0112
Gamma-aminobutyric acid receptor subunit beta-11001
Alpha-1B adrenergic receptor0101
Alpha-1A adrenergic receptor0011
Gamma-aminobutyric acid receptor subunit delta1001
Gamma-aminobutyric acid receptor subunit gamma-21001
Alpha-2C adrenergic receptor0112
Alpha-2B adrenergic receptor0101
Gamma-aminobutyric acid receptor subunit alpha-51001
Gamma-aminobutyric acid receptor subunit alpha-31001
Alpha-2C adrenergic receptor0101
Alpha-2A adrenergic receptor0101
Gamma-aminobutyric acid receptor subunit gamma-11001
Gamma-aminobutyric acid receptor subunit alpha-21001
Alpha-1D adrenergic receptor0101
Alpha-1D adrenergic receptor0101
Gamma-aminobutyric acid receptor subunit alpha-41001
Gamma-aminobutyric acid receptor subunit gamma-31001
Gamma-aminobutyric acid receptor subunit alpha-61001
Alpha-1A adrenergic receptor0101
Histamine H2 receptor1001
Gamma-aminobutyric acid receptor subunit alpha-11001
Gamma-aminobutyric acid receptor subunit beta-31001
Gamma-aminobutyric acid receptor subunit beta-21001
GABA theta subunit1001
Gamma-aminobutyric acid receptor subunit epsilon1001
AR protein3003
glucocorticoid receptor [Homo sapiens]1001
retinoid X nuclear receptor alpha3003
estrogen-related nuclear receptor alpha3003
activating transcription factor 62002
thyroid hormone receptor beta isoform a2002
thyroid hormone receptor beta isoform 22002
lethal factor (plasmid)1001
lamin isoform A-delta103003
Cellular tumor antigen p534004
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial0101
[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial0101
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE3003
Chain A, TYROSYL-DNA PHOSPHODIESTERASE2002
Chain A, Dihydrofolate reductase0011
Chain A, Putative fructose-1,6-bisphosphate aldolase1001
Chain A, HADH2 protein2002
Chain B, HADH2 protein2002
Chain A, 2-oxoglutarate Oxygenase1001
Chain A, Ferritin light chain1001
acid sphingomyelinase1001
glp-1 receptor, partial1001
USP1 protein, partial1001
GLI family zinc finger 31001
aldehyde dehydrogenase 1 family, member A12002
glucocerebrosidase1001
vitamin D (1,25- dihydroxyvitamin D3) receptor1001
alpha-galactosidase1001
lysosomal alpha-glucosidase preproprotein1001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
DNA polymerase beta2002
Multidrug resistance-associated protein 40102
Bile salt export pump0202
Thymidylate synthase0202
Thymidylate synthase0101
Dihydrofolate reductase0011
Aldo-keto reductase family 1 member B10202
Alpha-synuclein1001
Folylpolyglutamate synthase, mitochondrial0001
Solute carrier organic anion transporter family member 1A30101
Folylpolyglutamate synthase, mitochondrial0001
Multidrug resistance associated protein0001
cytochrome P450 family 3 subfamily A polypeptide 41001
pregnane X nuclear receptor2002
chromobox protein homolog 11001
Glutamate receptor ionotropic, NMDA 2D0101
ATP-binding cassette sub-family C member 30101
Acetylcholinesterase0101
Glutamate receptor ionotropic, NMDA 3B0101
Rap guanine nucleotide exchange factor 31001
Glutamate receptor ionotropic, NMDA 1 0202
Sodium channel protein type 4 subunit alpha0101
Cholinesterase0101
Glutamate receptor ionotropic, NMDA 2A 0202
Glutamate receptor ionotropic, NMDA 2B0202
Glutamate receptor ionotropic, NMDA 2C0202
Glutamate receptor ionotropic, NMDA 10202
Glutamate receptor ionotropic, NMDA 2A0202
Glutamate receptor ionotropic, NMDA 2B0202
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, NMDA 2D0202
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0202
Canalicular multispecific organic anion transporter 10101
Glutamate receptor ionotropic, NMDA 3A0202
Sodium-dependent noradrenaline transporter 0202
Sodium-dependent dopamine transporter0101
Sodium-dependent serotonin transporter0202
Sodium-dependent dopamine transporter 0202
progesterone receptor1001
retinoic acid nuclear receptor alpha variant 12002
nuclear factor erythroid 2-related factor 2 isoform 12002
Monocarboxylate transporter 40001
Monocarboxylate transporter 20001
Monocarboxylate transporter 10001
C-terminal-binding protein 20101
Prolyl 4-hydroxylase0101
Solute carrier organic anion transporter family member 2A10101
Alpha-ketoglutarate-dependent dioxygenase FTO0101
Chain A, Beta-lactamase1001
Chain A, ATP-DEPENDENT DNA HELICASE Q11001
acetylcholinesterase1001
Ubiquitin-like modifier activating enzyme 20101
SMAD family member 21001
SUMO1 activating enzyme subunit 10101
SMAD family member 31001
bromodomain adjacent to zinc finger domain 2B1001
peroxisome proliferator-activated receptor delta1001
peroxisome proliferator activated receptor gamma1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
hexokinase0101
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Bloom syndrome protein isoform 11001
SUMO-conjugating enzyme UBC90101
eukaryotic translation initiation factor 4 gamma 1 isoform 40101
eukaryotic translation initiation factor 4E isoform 10101
nuclear receptor ROR-gamma isoform 11001
lethal(3)malignant brain tumor-like protein 1 isoform I1001
DNA polymerase kappa isoform 11001
Vif0101
Tat0101
histone acetyltransferase KAT2A isoform 11001
DNA dC->dU-editing enzyme APOBEC-3G isoform 10101
bifunctional UDP-N-acetylglucosamine pyrophosphorylase/glucosamine-1-phosphate N-acetyltransferase0101
Cholinesterase0101
Glutamate receptor 11001
Glutamate receptor 21001
Glutamate receptor 31001
Glutamate receptor 41001
Acetylcholinesterase0101
Nuclear receptor ROR-gamma1001
TAR DNA-binding protein 431001
ATP-dependent phosphofructokinase1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]