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5-Oxoprolinase Deficiency
smpdb.ca/view/SMP0000500Disease5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxopr...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier proteingamma-Glutamyltranspeptidase Deficiency
smpdb.ca/view/SMP0000501DiseaseGamma-glutamyltranspeptidase deficiency, characterized by glutathionemia and glutathionuria, is an autosomal recessive disorder of glutathione metabolism caused by a defective gamma-glutamyl transpeptidase (GGT). GGT transfers glutamyl m...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier proteinGlutathione Synthetase Deficiency
smpdb.ca/view/SMP0125614DiseaseGlutathione Synthetase Deficiency (5-Oxoprolinuria; Pyroglutamic Aciduria; GSD) is a rare inborn error of metabolism (IEM) which arises from a disfunctional gene called GSS. This gene is responsible for glutathione synthetase. Glutathion...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier proteingamma-Glutamyltransferase Deficiency
smpdb.ca/view/SMP0125616DiseaseGamma-Glutamyltransferase Deficiency is an autosomal recessive disorder caused by a mutation in the GGT1 gene which codes for gamma-glutamyltranspeptidase 1. A deficiency in this enzyme results in accumulation of L-cysteine, gamma-glutam...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier protein5-Oxoprolinase Deficiency
smpdb.ca/view/SMP0125617Disease5-Oxoprolinase deficiency, also called OPLAHD, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of glutathione metabolism caused by a defective 5-oxoprolinase. 5-Oxoprolinase catalyzes the conversion of 5-oxopr...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier proteinPyruvate Metabolism
smpdb.ca/view/SMP0000060MetabolicPyruvate is an intermediate compound in the metabolism of fats, proteins, and carbohydrates. It can be formed from glucose via glycolysis or the transamination of alanine. It can be converted into Acetyl-CoA to be used as the primary ene...
Enzymes: Malate dehydrogenase, cytoplasmicPyruvate Kinase Deficiency
smpdb.ca/view/SMP0000559DiseasePyruvate 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, cytoplasmicPyruvate 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, cytoplasmic