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Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism, cblG Complementation Type
smpdb.ca/view/SMP0000570DiseaseThis enzyme is responsible for forming L-methionine and tetrahydrofolic acid from homocysteine and 5-methyltetrahydrofolic acid. … Symptoms include megaloblastic anemia, and can also include developmental delays, seisures and kidney failure. Treatment with vitamin B12, as well as folates and betaine is effective.
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreEnzymes: L-amino-acid oxidaseMultiple Carboxylase Deficiency, Neonatal or Early Onset Form
smpdb.ca/view/SMP0000564DiseaseHowever, if left untreated the disorder can lead to delayed development, seizures, and coma. … Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations
Multiple Carboxylase Deficiency, Neonatal or Early Onset Form
smpdb.ca/view/SMP0125778DiseaseHowever, if left untreated the disorder can lead to delayed development, seizures, and coma. … Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations
Itraconazole Metabolism
smpdb.ca/view/SMP0125100MetabolicItraconazole is taken mainly in a pill form. The oral bioavailability of itraconazole is only 55% and is best when taken with food. … Once there, it travels to the liver and is transported in via P-glycoprotein.
Adrenal Hyperplasia Type 5 or Congenital Adrenal Hyperplasia Due to 17 alpha-Hydroxylase Deficiency
smpdb.ca/view/SMP0125799DiseaseThese 2 enzymes catalyze pregnenolone and progesterone to their 17-hydroxy forms in steroidogenesis and mediate three key transformations in cortisol and sex steroid synthesis. … Testosterone must be replaced for genetically males (XY) to induce puberty and continued throughout adult life.
Fluconazole Action Pathway
smpdb.ca/view/SMP0125079Drug actionThis enzyme catalyzes the reaction of lanosterol with 3 oxygen and 3 NADPH to become 4,4-Dimethylcholesta-8,14,24-trienol with byproducts of formic acid, 4 hydrogen ions, 4 water, and 3 NADP+. … Fluconazole, known commonly as the brand name Driflucan, is an antifungal drug taken mainly orally in the form of a pill, but can also be applied topically.
Itraconazole Action Pathway
smpdb.ca/view/SMP0125099Drug actionThis enzyme catalyzes the reaction of lanosterol with 3 oxygen and 3 NADPH to become 4,4-Dimethylcholesta-8,14,24-trienol with byproducts of formic acid, 4 hydrogen ions, 4 water, and 3 NADP+. … It is also more likely to be used for pulmonary and extrapulmonary blastomycosis, histoplasmosis, aspergillosis, and onychomycosis, but not much is known of the fungi species in those infections.
Oxiconazole Action Pathway
smpdb.ca/view/SMP0125405Drug actionWithout ergosterol, the fungus cell cannot synthesize membranes thereby increasing fluidity and preventing growth of new cells. This causes the cell to collapse and die. … Oxiconazole is a topical antifungal agent, known as the brand name Oxistat, that is used to treat a variety of skin fungal infections such as athlete's foot, jock itch, and ringworm.It is used to treat
Terconazole Action Pathway
smpdb.ca/view/SMP0125439Drug actionThe drug comes in a cream or suppository form with high levels of safety, efficacy, and tolerability for both. … Without ergosterol, the fungus cell cannot synthesize membranes thereby increasing fluidity and preventing growth of new cells. This leads to cell lysis which causes it to collapse and die.
Tioconazole Action Pathway
smpdb.ca/view/SMP0125440Drug actionThrough unknown mechanisms, tioconazole may also inhibit endogenous respiration, interact with membrane phospholipids, inhibit the transformation of yeasts to mycelial forms and the uptake of purine, impair … Without ergosterol, the fungus cell cannot synthesize membranes thereby increasing fluidity and preventing growth of new cells. This leads to cell lysis which causes it to collapse and die.