Page last updated: 2024-10-06

Pyruvate Kinase Deficiency

Proteins (21)

ProteinSynonymsTaxonomy
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrialEC 2.3.1.12; 70 kDa mitochondrial autoantigen of primary biliary cirrhosis; PBC; Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex; M2 antigen complex 70 kDa subunit; Pyruvate dehydrogenase complex component E2; PDC-E2; PDCE2Homo sapiens (human)
Acetyl-coenzyme A synthetase, cytoplasmicEC 6.2.1.1; Acetate--CoA ligase; Acetyl-CoA synthetase; ACS; AceCS; Acetyl-CoA synthetase 1; AceCS1; Acyl-CoA synthetase short-chain family member 2; Acyl-activating enzyme; Propionate--CoA ligase; 6.2.1.17Homo sapiens (human)
L-lactate dehydrogenase A chainLDH-A; EC 1.1.1.27; Cell proliferation-inducing gene 19 protein; LDH muscle subunit; LDH-M; Renal carcinoma antigen NY-REN-59Homo sapiens (human)
Aldo-keto reductase family 1 member B1EC 1.1.1.300; EC 1.1.1.372; EC 1.1.1.54; Aldehyde reductase; Aldose reductase; AR; 1.1.1.21Homo sapiens (human)
Pyruvate kinase PKLREC 2.7.1.40; Pyruvate kinase 1; Pyruvate kinase isozymes L/R; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinaseHomo sapiens (human)
Acetyl-CoA carboxylase 1ACC1; EC 6.4.1.2; Acetyl-Coenzyme A carboxylase alpha; ACC-alphaHomo sapiens (human)
Pyruvate dehydrogenase E1 component subunit beta, mitochondrialPDHE1-B; EC 1.2.4.1Homo sapiens (human)
Glyoxylate reductase/hydroxypyruvate reductaseEC 1.1.1.79; EC 1.1.1.81Homo sapiens (human)
Aldehyde dehydrogenase, mitochondrialEC 1.2.1.3; ALDH class 2; ALDH-E2; ALDHIHomo sapiens (human)
Lactoylglutathione lyaseEC 4.4.1.5; Aldoketomutase; Glyoxalase I; Glx I; Ketone-aldehyde mutase; Methylglyoxalase; S-D-lactoylglutathione methylglyoxal lyaseHomo sapiens (human)
Phosphoenolpyruvate carboxykinase, cytosolic [GTP]PEPCK-C; EC 4.1.1.32; Serine-protein kinase PCK1; 2.7.11.-Homo sapiens (human)
NADP-dependent malic enzymeNADP-ME; EC 1.1.1.40; Malic enzyme 1Homo sapiens (human)
Hydroxyacylglutathione hydrolase, mitochondrialEC 3.1.2.6; Glyoxalase II; Glx IIHomo sapiens (human)
Acetyl-CoA acetyltransferase, mitochondrialEC 2.3.1.9; Acetoacetyl-CoA thiolase; T2Homo sapiens (human)
Malate dehydrogenase, cytoplasmicEC 1.1.1.37; Cytosolic malate dehydrogenase; Diiodophenylpyruvate reductase; 1.1.1.96Homo sapiens (human)
Dihydrolipoyl dehydrogenase, mitochondrialEC 1.8.1.4; Dihydrolipoamide dehydrogenase; Glycine cleavage system L proteinHomo sapiens (human)
Pyruvate carboxylase, mitochondrialEC 6.4.1.1; Pyruvic carboxylase; PCBHomo sapiens (human)
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialEC 1.2.4.1; PDHE1-A type IHomo sapiens (human)
Probable D-lactate dehydrogenase, mitochondrialDLD; Lactate dehydrogenase D; EC 1.1.2.4Homo sapiens (human)
Acylphosphatase-1EC 3.6.1.7; Acylphosphatase, erythrocyte isozyme; Acylphosphatase, organ-common type isozyme; Acylphosphate phosphohydrolase 1Homo sapiens (human)
Acetyl-coenzyme A thioesteraseEC 3.1.2.1; Acyl-CoA thioester hydrolase 12; Acyl-coenzyme A thioesterase 12; Acyl-CoA thioesterase 12; Cytoplasmic acetyl-CoA hydrolase 1; CACH-1; hCACH-1; START domain-containing protein 15; StARD15Homo sapiens (human)

Compounds (31)

CompoundDescription
phosphoric acidconcise etchant is 37% H3PO4
propylene glycolA clear, colorless, viscous organic solvent and diluent used in pharmaceutical preparations.
hydronium ion
pyruvic acidAn intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
Orthophosphate
l-lactic acid
GlutathioneA tripeptide with many roles in cells. It conjugates to drugs to make them more soluble for excretion, is a cofactor for some enzymes, is involved in protein disulfide bond rearrangement and reduces peroxides.
acetic acidProduct of the oxidation of ethanol and of the destructive distillation of wood. It is used locally, occasionally internally, as a counterirritant and also as a reagent. (Stedman, 26th ed)
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
NADH
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
adenosine monophosphateAdenine nucleotide containing one phosphate group esterified to the sugar moiety in the 2'-, 3'-, or 5'-position.
hydrogen carbonate
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Coenzyme A
phosphoenolpyruvateA monocarboxylic acid anion derived from selective deprotonation of the carboxy group of phosphoenolpyruvic acid. It is a metabolic intermediate in GLYCOLYSIS; GLUCONEOGENESIS; and other pathways.
acetaldehydeA colorless, flammable liquid used in the manufacture of acetic acid, perfumes, and flavors. It is also an intermediate in the metabolism of alcohol. It has a general narcotic action and also causes irritation of mucous membranes. Large doses may cause death from respiratory paralysis.
acetyl phosphate
Levocarnitine
acetyl adenylateused to acetylate histones in chromatin
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
lipoamideRN given refers to cpd without isomeric designation
pyruvaldehydeAn organic compound used often as a reagent in organic synthesis, as a flavoring agent, and in tanning. It has been demonstrated as an intermediate in the metabolism of acetone and its derivatives in isolated cell preparations, in various culture media, and in vivo in certain animals.
oxaloacetic acidA dicarboxylic acid ketone that is an important metabolic intermediate of the CITRIC ACID CYCLE. It can be converted to ASPARTIC ACID by ASPARTATE TRANSAMINASE.
malic acid
acetyl coenzyme aAcetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.
creolinfrom refined coal tar oils
d-lactic acid
pyrophosphate
dihydrolipoamideRN given refers to cpd without isomeric designation