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Glycogenosis, Type IC
smpdb.ca/view/SMP0000574DiseaseGlycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. Glucose-6-phosphate translocase transports glucose 6-phosph...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinGlycogen Storage Disease Type 1A (GSD1A) or Von Gierke Disease
smpdb.ca/view/SMP0125790DiseaseGlycogen storage disease type 1A (GSD1A), or von Gierke disease, is caused by a defect in the G6PC gene which codes for Glucose-6-phosphatase. Glucose-6-phosphatase hydrolyzes glucose-6-phosphate to glucose and is responsible for the reg...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinGlycogenosis, Type IB
smpdb.ca/view/SMP0125794DiseaseGlycogenosis, 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 proteinGlycogenosis, Type IC
smpdb.ca/view/SMP0125795DiseaseGlycogenosis, Type IC, a sub-category of glycogen storage disease type I, is a rare inborn error of metabolism (IEM) and caused by a defective glucose-6-phosphatase translocase. Glucose-6-phosphate translocase transports glucose 6-phosph...
Enzymes: Malate dehydrogenase, mitochondrial, Mitochondrial 2-oxoglutarate/malate carrier proteinGlycogenosis, Type IA. Von Gierke Disease
smpdb.ca/view/SMP0125796DiseaseGlycogenosis, 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 proteinRegorafenib
go.drugbank.com/drugs/DB08896ApprovedInvestigationalRegorafenib is an orally-administered inhibitor of multiple kinases. It is used for the treatment of metastatic colorectal cancer, advanced gastrointestinal stromal tumours, and hepatocellular carcinoma. FDA approved on September 27, 201...
gamma-Glutamyltransferase Deficiency
smpdb.ca/view/SMP0000183DiseaseGamma-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 proteinGlutathione Synthetase Deficiency
smpdb.ca/view/SMP0000337DiseaseGlutathione 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 protein5-Oxoprolinuria
smpdb.ca/view/SMP0125615Disease5-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 proteingamma-Glutamyltranspeptidase Deficiency
smpdb.ca/view/SMP0125618DiseaseGamma-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 protein