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Pyruvate Dehydrogenase Complex Deficiency
smpdb.ca/view/SMP0125772DiseasePyruvate dehydrogenase complex deficiency results from a mutation in the E1-alpha polypeptide gene (PDHA1). PDHA1 encodes the pyruvate dehydrogenase complex (PDC) a critical complex that converts pyruvate from glycolysis to acetyl CoA fo...
Enzymes: Malate dehydrogenase, cytoplasmicPyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency)
smpdb.ca/view/SMP0125771DiseasePyruvate Decarboxylase E1 Component Deficiency is caused by a defect in the PDHA1 gene which codes for mitochondrial pyruvate dehydrogenase E1 component subunit alpha, somatic form. This is a homotetrameric enzyme that catalyses the deca...
Enzymes: Malate dehydrogenase, cytoplasmicPyruvate Kinase Deficiency
smpdb.ca/view/SMP0125774DiseasePyruvate kinase deficiency is a genetic disorder. It affects red blood cells in the body. Patients are affected by a condition called chronic hemolytic anemia, which is where red blood cells undergo hemolysis before they are meant to whi...
Enzymes: Malate dehydrogenase, cytoplasmicGlycogen Storage Disease Type II
go.drugbank.com/conditions/DBCOND0002595Synonyms: Acid Maltase Deficiency, Acid Maltase Deficiency DiseaseLeigh Syndrome
smpdb.ca/view/SMP0125770DiseaseLeigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disrup...
Enzymes: Malate dehydrogenase, cytoplasmicPrimary Hyperoxaluria II, PH2
smpdb.ca/view/SMP0125773DiseasePrimary hyperolaria type 2 (PH2) is a rare condition resulting from glyoxylate reductase/hydroxypyruvate reductase (GR/HPR) enzyme deficiency. PH2 results in calcium oxalate (also known as oxalic acid) deposits and end-stage renal diseas...
Enzymes: Malate dehydrogenase, cytoplasmicVon Willebrand factor human
go.drugbank.com/drugs/DB13133ApprovedInvestigationalThe human vWF is used to manage and control bleeding episodes in patients with von Willebrand disease and hemophilia A. It was first approved by the FDA in 2015.
Mixtures: TALATE, TALATEErectile Dysfunction
go.drugbank.com/conditions/DBCOND0029956Synonyms: Male Erectile Disorder, Male Erectile DysfunctionDexchlorpheniramine
go.drugbank.com/drugs/DB13679InvestigationalThe salt form dexchlorpheniramine maleate as the active ingredient is available as a prescription drug indicated for adjunctive therapy for allergic and anaphylactic reactions.
Leigh Syndrome
smpdb.ca/view/SMP0000196DiseaseLeigh Syndrome, also called Leigh Disease or infantile subacute necrotizing encephalopathy, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that is caused by a mutation of any one of 75 different genes. Disrup...
Enzymes: Malate dehydrogenase, cytoplasmic