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Purine Nucleoside Phosphorylase Deficiency
smpdb.ca/view/SMP0000210DiseasePurine nucleoside phosphorylase deficiency (Nucleoside phosphorylase; Immunodeficiency) is a rare disease causing severe immunodeficiency. The disease is caused by a mutation in the enzyme purine nucleoside phosphorylase. The enzyme is n...
Drugs: Tetrahydrofolic acid · Aspartic acid · L-Glutamine · Adenosine phosphate · Glutamic acid · Glycine +24 moreUMP Synthase Deficiency (Orotic Aciduria)
smpdb.ca/view/SMP0000219DiseaseOrotic aciduria, also known as UMP synthase deficiency, is an autosomal recessive disorder of pyrimidine metabolism caused by a defective uridine monophosphate synthetase (UMPS). UMPS is a multifunctional protein which carries out the fu...
Methionine Adenosyltransferase Deficiency
smpdb.ca/view/SMP0000221DiseaseMethionine adenosyltransferase (MAT; Hypermethioninemia; MAT I/III deficiency) deficiency is caused by mutations in the MAT1A gene which causes isolated hypermethioninemia. MAT catalyzes the formation of adenosylmethionine from methionin...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Choline · Adenosine phosphate · Serine +17 moreNon-Ketotic Hyperglycinemia
smpdb.ca/view/SMP0000223DiseaseNon Ketotic Hyperglycinemeia (Glycine encephalopathy; Glycine cleavage system deficiency; NKH) is caused by mutations in several genes in the mitochondrial glycine cleavage system. These include the genes encoding P protein (GLDC), T pro...
Drugs: Pyridoxal phosphate · Tetrahydrofolic acid · Ademetionine · Pyruvic acid · Arginine · Adenosine phosphate +26 moreRabeprazole Action Pathway
smpdb.ca/view/SMP0000229Drug actionRabeprazole is a drug that belongs to the anti secretory drug class. It is used as an anti-ulcer medication, and helps relieve gastric acid reflux, gastric irritation and gastric pain. It inhibits the proton pump action of ATPase, which ...
Isovaleric Aciduria
smpdb.ca/view/SMP0000238DiseaseIsovaleric acidemia (IVA) is caused by mutation in the isovaleryl CoA dehydrogenase gene. Isovaleryl CoA dehydrogenase is part of the acyl-CoA dehydrogenase family and is involved in the catabolism of leucine. A defect in this enzyme cau...
Saccharopinuria/Hyperlysinemia II
smpdb.ca/view/SMP0000239DiseaseSaccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency) is caused by a partial deficiency of aminoadipic semialdehyde synthase (AASS) enzyme and caus...
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 more4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
smpdb.ca/view/SMP0000243Disease4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo...
Drugs: Pyridoxal phosphate · Pyruvic acid · Biotin · Aspartic acid · L-Glutamine · Adenosine phosphate +17 morePirenzepine Action Pathway
smpdb.ca/view/SMP0000246Drug actionPirenzepine (also known as Gastrozepin) is a selective antagonist (antimuscarinic) that will inhibit the muscarinic acetylcholine receptor M3 inside the stomach. Binding of pirenzepine on the receptor will decrease the level of exertion ...
Clopidogrel Action Pathway
smpdb.ca/view/SMP0000260Drug actionClopidogrel, marketed as Plavix, is an antiplatelet drug that targets the P2Y12 receptor of platelets. Clopidogrel is taken orally as a prodrug, and must be metabolically activated before it can be effective. It first enters the liver an...