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Quinidine Action Pathway
smpdb.ca/view/SMP0000323Drug actionThis pathway illustrates the quinidine targets involved in antiarrhythmic therapy. Contractile activity of cardiac myocytes is elicited via action potentials mediated by a number of ion channel proteins. During rest, or diastole, cells m...
Disopyramide Action Pathway
smpdb.ca/view/SMP0000325Drug actionThis pathway illustrates the disopyramide targets involved in antiarrhythmic therapy. Contractile activity of cardiac myocytes is elicited via action potentials mediated by a number of ion channel proteins. During rest, or diastole, cell...
Hyperinsulinism-Hyperammonemia Syndrome
smpdb.ca/view/SMP0000339DiseaseHyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 moreHypermethioninemia
smpdb.ca/view/SMP0000341DiseaseHypermethioninemia is a rare error of metabolism (IEM) which arises when there is a disfunction in the gene called AHCY. This gene is responsible for Adenosylhomocysteinase, an enzyme which takes S-adenosyl homocysteine as input, and pro...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreGaucher Disease
smpdb.ca/view/SMP0000349DiseaseGaucher disease, also known as glucocerebrosidase deficiency, acid beta-glucosidase deficiency or GBA deficiency, refers to a group of autosomal recessively inherited rare inborn error of metabolism (IEM) that affect the sphingolipid met...
Primary Hyperoxaluria Type I
smpdb.ca/view/SMP0000352DiseaseType I primary hyperoxaluria (Glycolicaciduria) is caused by mutation in the gene encoding alanine-glyoxylate aminotransferase (AGXT). AGXT normally catalyzes the reaction from L-serine and pyruvate to 3-hydroxypyruvate and L-alanine and...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Adenosine phosphate · Glutamic acid · Glycine +6 moreLeukotriene C4 Synthesis Deficiency
smpdb.ca/view/SMP0000353DiseaseLeukotriene C4 synthetase deficiency is caused by a defect in the enzyme leukotriene C4 synthetase (LTC4S). This enzyme catalyzes the synthesis of leukotriene C4 (LTC4) through conjugation of LTA4 with reduced glutathione (GSH), which is...
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 ...
Argininemia
smpdb.ca/view/SMP0000357DiseaseArgininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginin...
Drugs: Pyridoxal phosphate · Pyruvic acid · Arginine · Aspartic acid · Ornithine · L-Glutamine +11 moreFc Epsilon Receptor I Signaling in Mast Cells
smpdb.ca/view/SMP0000358SignalingFc epsilon receptor 1 (Fc epsilon RI) is a high-affinity receptor for the Fc region of immunoglobulin E (IgE), an antibody isotope involved in allergies. The antigens of allergens bind to IgE antibodies, which then interact with Fc epsil...