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Cholesteryl Ester Storage Disease
smpdb.ca/view/SMP0000508DiseaseLysosomal acid lipase enzyme catalyzes the conversion of cholesterol and fatty acid into cholesterol ester. … Lysosomal acid lipase deficiency can be treated with sebelipase alfa.
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseSmith-Lemli-Opitz Syndrome (SLOS)
smpdb.ca/view/SMP0125635DiseaseSLOS causes the accumulation of 7-dehydrocholesterol and 8-dehydrocholesterol, and a decrease of cholesterol in plasma; and 3-methylglutaconic acid in urine.
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseAndrogen and Estrogen Metabolism
smpdb.ca/view/SMP0000068MetabolicThis pathway describes the inactivation and catabolism of male (androgen) and female (estrogen) hormones. Many steroid hormones are transformed by sulfatases, dehydrogenases and glucuronide transferases to enhance their solubility and to...
17-beta Hydroxysteroid Dehydrogenase III Deficiency
smpdb.ca/view/SMP0000356Disease17-beta hydroxysteroid dehydrogenase III deficiency, also known as 17-KSR deficiency or male pseudohermaphroditism with gynecomastia (MPH), is as rare inborn error of metabolism (IEM) and autosomal recessive disorder of the androgen and ...
Aromatase Deficiency
smpdb.ca/view/SMP0125782DiseaseAromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vita...
Simvastatin Action Pathway
smpdb.ca/view/SMP0000082Drug actionSimvastatin, the methylated form of lovastatin, is an inactive lactone that is metabolized in vivo to β,δ-dihydroxy acid, its most potent metabolite. … The active hydroxy acid is structurally similar to the reduced reaction intermediate and competes with HMG-CoA for binding to HMG-CoA reductase.
Drugs: Cholecalciferol · ATP · Simvastatin · Magnesium cation · Iron · Dimethylallyl Diphosphate +9 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseLovastatin Action Pathway
smpdb.ca/view/SMP0000099Drug actionHMG-CoA catalyzes the conversion of HMG-CoA to mevalonic acid, the rate-limiting step of cholesterol biosynthesis. Lovastatin, like simvastin, is a prodrug. … These prodrugs are converted to their active form by in vivo hydrolysis of the lactone ring.
Drugs: Cholecalciferol · ATP · Lovastatin · Magnesium cation · Iron · Dimethylallyl Diphosphate +9 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseFluvastatin Action Pathway
smpdb.ca/view/SMP0000119Drug actionHMG-CoA reductase is the enzyme responsible for the conversion of HMG-CoA to mevalonic acid, the rate-limiting step of cholesterol synthesis by this pathway. … Fluvastatin bears a chemical resemblance to the reduced HMG-CoA reaction intermediate that is formed during catalysis. Fluvastatin was the first synthetically-prepared HMG-CoA reductase inhibitor.
Drugs: Cholecalciferol · ATP · Fluvastatin · Magnesium cation · Iron · Dimethylallyl Diphosphate +9 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000543DiseaseMethylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofol...
Aromatase Deficiency
smpdb.ca/view/SMP0000565DiseaseAromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vita...