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Phosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)
smpdb.ca/view/SMP0000560DiseasePhosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxyki...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinGlycogenosis, Type IA. Von Gierke Disease
smpdb.ca/view/SMP0000581DiseaseGlycogenosis, Type IA, also called Von Gierke Disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective glucose-6-phosphatase. Glucose-6-phosphatase catalyzes the conversion of glucose...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinTriosephosphate Isomerase Deficiency
smpdb.ca/view/SMP0125793DiseaseTriosephosphate isomerase deficiency is a genetic disorder caused by a mutation in the TPI1 gene. The mutation of this gene causes the production of enzymes that are unstable or enzymes that have reduced activity. This means that cells h...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinPhosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1)
smpdb.ca/view/SMP0125791DiseasePhosphoenolpyruvate Carboxykinase Deficiency 1 (PEPCK1), also called Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency, Phosphopyruvate carboxylase deficiency, Phosphoenolpyruvate carboxylase deficiency, Phosphoenolpyruvate carboxyki...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinFructose-1,6-diphosphatase Deficiency
smpdb.ca/view/SMP0125792DiseaseFructose-1,6-bisphosphatase deficiency (FBP1D) is an autosomal recessive inborn error of metabolism (IEM) caused by a mutation in the FBP1 gene which encodes for fructose-1,6-bisphosphatase-1. This enzyme is responsible for catalyzing th...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier protein5-Oxoprolinuria
smpdb.ca/view/SMP0000143Disease5-Oxoprolinuria (5-Oxoprolinase deficiency) is a result of a defect in the gamma-glutamyl cycle due to either 5-oxoprolinase or glutathione synthetase deficiency. In the case of glutathione synthetase deficiency, the glycine is not incor...
Enzymes: Mitochondrial 2-oxoglutarate/malate carrier proteinGluconeogenesis
smpdb.ca/view/SMP0000128MetabolicGluconeogenesis, which is essentially the reverse of glycolysis, results in the sythesis of glucose from non-carbohydrate substrates such as lactate, glycerol, and glucogenic amino acids. In animals, gluconeogenesis occurs primarily in t...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinFructose-1,6-diphosphatase Deficiency
smpdb.ca/view/SMP0000562DiseaseFructose-1,6-bisphosphatase deficiency (FBP1D) is an autosomal recessive inborn error of metabolism (IEM) caused by a mutation in the FBP1 gene which encodes for fructose-1,6-bisphosphatase-1. This enzyme is responsible for catalyzing th...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinTriosephosphate Isomerase Deficiency
smpdb.ca/view/SMP0000563DiseaseTriosephosphate isomerase deficiency is a genetic disorder caused by a mutation in the TPI1 gene. The mutation of this gene causes the production of enzymes that are unstable or enzymes that have reduced activity. This means that cells h...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinGlycogenosis, Type IB
smpdb.ca/view/SMP0000573DiseaseGlycogenosis, Type IB, also called von Gierke disease or GSDI, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder which caused by a defective glucose-6-phosphate translocase. Glucose-6-phosphate translocase trans...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier protein