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Pyruvate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0125772DiseasePDHA1 encodes the pyruvate dehydrogenase complex (PDC) a critical complex that converts pyruvate from glycolysis to acetyl CoA for the citric acid cycle. … Pyruvate dehydrogenase complex deficiency results from a mutation in the E1-alpha polypeptide gene (PDHA1).
Enzymes: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrialPegadricase
go.drugbank.com/drugs/DB15129InvestigationalPegadricase is under investigation in clinical trial NCT01021241 (Safety and Efficacy Study of Intravenous Uricase-PEG 20).
Synonyms: SEL 037, SEL-0372-Ketoglutarate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0000549Diseaseoxoglutarate dehydrogenase complex (OGDC). … 2-Ketoglutarate dehydrogenase complex deficiency, also known as alpha-ketoglutarate dehydrogenase deficiency or oxoglutaric aciduria, is an autosomal recessive disorder of the Krebs cycle caused by a defective
Enzymes: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial, Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrialRusfertide
go.drugbank.com/drugs/DB17724ApprovedInvestigationalRusfertide is a hepcidin mimetic used to treat erythrocytosis in adults with polycythemia vera. It is a synthetic cyclic peptide that blocks the iron transporter ferroportin, reducing the availability of iron for red blood cell productio...
Synonyms: Isovaleryl-asp-thr-his-phe-pro-cyclo(cys-ile-lys(palm-gamma-glu)- phe-glu-pro-arg-ser-lys-gly-cys)-lys-nh2Anaritide
go.drugbank.com/drugs/DB17613ExperimentalSynonyms: Arg-ser-ser-cys-phe-gly-gly-arg-met-asp-arg-ile-gly-ala-gln-ser-gly-leu-gly-cys-asn-ser-phe-arg-tyr (cys 4-20 crosslinked)Pyruvate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0000212DiseasePDHA1 encodes the pyruvate dehydrogenase complex (PDC) a critical complex that converts pyruvate from glycolysis to acetyl CoA for the citric acid cycle. … Pyruvate dehydrogenase complex deficiency results from a mutation in the E1-alpha polypeptide gene (PDHA1).
Enzymes: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrialMitochondrial Complex II Deficiency
smpdb.ca/view/SMP0000548DiseaseInterestingly, complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. … Because complex II is found in the mitochondria, CII deficiency is technically considered a mitochondrial disease.
Enzymes: Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial, Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrialCopper gluconate Drug Metabolism
smpdb.ca/view/SMP0130548MetabolicCopper gluconate passes through the liver and is then excreted from the body mainly through the kidney. … Copper gluconate is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis.
Drugs: Copper gluconateWT-1 122 long
go.drugbank.com/drugs/DB17353ExperimentalSynonyms: Ser-gly-gln-ala-tyr-met-phe-pro-asn-ala-pro-tyr-leu-pro-ser-cys-leu-glu-serRedasemtide
go.drugbank.com/drugs/DB19121InvestigationalRedasemtide is under investigation in clinical trial NCT05953480 (A Phase 2b, Randomized, Double-blind Study of Redasemtide (S-005151) in Adult Participants With Acute Ischemic Stroke).
Synonyms: Met-gly-lys-gly-asp-pro-lys-lys-pro-arg-gly-lys-met-ser-ser-tyr-ala-phe-phe-val-gln-thr-cys-arg-glu-glu-his-lys-lys-lys-his-pro-asp-ala-ser-val-asn-phe-ser-glu-phe-ser-lys-lys