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Mevalonic Aciduria
smpdb.ca/view/SMP0125643DiseaseIt is manifested by high levels of mevalonic acid in the urine and other body fluids. Approximately 30 patients with mevalonic aciduria (MVA) have been reported worldwide. … MVA is classified as a disorder of branched-chain organic acid metabolism because the substrate for the reaction with mevalonate kinase, HMG-CoA, is a product of leucine catabolism.
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseFolate Malabsorption, Hereditary
smpdb.ca/view/SMP0000724DiseaseHereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway.
Folate Malabsorption, Hereditary
smpdb.ca/view/SMP0125747DiseaseHereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway.
Lodoxamide
go.drugbank.com/drugs/DB06794ApprovedLodoxamide is a mast-cell stabilizer for topical administration into the eye. Mast-cell stabilizers, first one approved being cromolyn sodium, are used in treatment of ocular hypersensitivity reactions such as vernal conjunctivitis. Thes...
Categories: Amino Acids, Acids, AldehydicMethotrexate Action Pathway
smpdb.ca/view/SMP0000432Drug actionBoth methotrexate and methotrexate-polyglutamate inhibit dihydrofolate reductase, an enzyme that catalyzes the conversion of dihydrofolate into tetrahydrofolate, which is the active form of folic acid.
17-beta Hydroxysteroid Dehydrogenase III Deficiency
smpdb.ca/view/SMP0125781Disease17-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 ...
Smith-Lemli-Opitz Syndrome (SLOS)
smpdb.ca/view/SMP0000389DiseaseSLOS 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 hydrolaseCholesteryl 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...