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Corticosterone Methyl Oxidase II Deficiency (CMO II)
smpdb.ca/view/SMP0125802DiseaseCompared to the CMO-I deficiency, the CMO-II deficiency has less severe mutations in the gene, which cause it to have less severe changes in aldosterone and 18-OHB concentrations. … However, since progesterone and 11b-hydroxyprogesterone are both produced and used by other reactions, their levels in the cell are not changed as drastically.
Eptifibatide Action Pathway (new)
smpdb.ca/view/SMP0126461Drug actionIt is administered intravenously and can act to decrease platelet aggregation for up to two days after administration. … The conformational change also prevents the binding of the von Willebrand factor to the platelets, which also prevents aggregation and adhesion.
Enzymes: Integrin alpha-IIbProlinemia Type II
smpdb.ca/view/SMP0000208DiseaseSymptoms include mental retardation, acute and chronic renal failure, and seizures. … An enzyme defect causes accumulation of glycine, hydroxyproline and proline in the urine, ornithine in the serum and proline in plasma.
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreHyperprolinemia Type II
smpdb.ca/view/SMP0125624DiseaseHyperprolinemia Type II (HPII), also known as 1-pyrroline-5-carboxylate dehydrogenase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the arginine … Symptoms include hydroxyprolinuria and hyperglycinuria, and can include seizures and some amount of mental retardation.
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreSaccharopinuria/Hyperlysinemia II
smpdb.ca/view/SMP0125699DiseaseA defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. … synthase (AASS) enzyme and causes an increase in saccharopine in the urine.
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 moreGalactosemia II (GALK)
smpdb.ca/view/SMP0000495DiseaseGalactokinase deficiency also called Galactosemia type II, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of galactokinase caused by a mutation in the GALK1 gene on chromosome … Galactokinase uses 1 ATP to catalyse the phosphorylation of α-D-galactose to galactose 1-phosphate and catalyses β-D-galactose to glucose 1-phosphate.
Galactosemia II (GALK)
smpdb.ca/view/SMP0125606DiseaseGalactokinase deficiency also called Galactosemia type II, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of galactokinase caused by a mutation in the GALK1 gene on chromosome … Galactokinase uses 1 ATP to catalyse the phosphorylation of α-D-galactose to galactose 1-phosphate and catalyses β-D-galactose to glucose 1-phosphate.
Xanthinuria Type II
smpdb.ca/view/SMP0000513DiseaseXanthinuria Type II is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. … Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreEnzymes: cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10AXanthinuria Type II
smpdb.ca/view/SMP0125731DiseaseXanthinuria Type II (Xanthine Dehydrogenase Deficiency) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder and caused by a defective xanthine dehydrogenase. … Symptoms of the disorder include blood in the urine, recurrent urinary tract infections and abdominal pain. It is estimated that xanthinuria types I and II affects 1 in 69,000 individuals.
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreEnzymes: cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10ASaccharopinuria/Hyperlysinemia II
smpdb.ca/view/SMP0000239DiseaseA defect in this enzyme results in accumulation of citrulline, lysine and saccharopin in the plasma; lysine in the spinal fluid; and citrulline, lysine and saccharopine in the urine. … synthase (AASS) enzyme and causes an increase in saccharopine in the urine.
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 more