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Hypophosphatasia
smpdb.ca/view/SMP0000503DiseaseInfantile hypophosphatasia, also called I-HPP, is a severe, rare and fatal metabolic bone disease and an inborn error of metabolism. I-HPP is caused by a defective alkaline phosphatase, tissue-nonspecific isozyme, which catalyzes the con...
Drugs: Pyridoxal phosphate · Pyridoxal · Pyridoxine · Magnesium cation · Zinc · Pyridoxamine-5'-Phosphate +3 moreHyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH-syndrome)
smpdb.ca/view/SMP0000506DiseaseHyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle caused by a defective SLC25A15 gene. SLC25A15 codes for the mitochondrial ornithine carrier (ORC1) which transports or...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreNitric Oxide Signaling Pathway
smpdb.ca/view/SMP0063777SignalingNitric oxide (NO) is a gaseous chemical transmitter that is produced from the amino acid L-arginine by the members of the NO synthase (NOS) family of proteins. The NOS family of enzymes catalyzes the oxidation of L-arginine to form L-cit...
Haloperidol Metabolism Pathway
smpdb.ca/view/SMP0125333MetabolicHaloperidol is an antipsychotic agent used to treat schizophrenia and other psychoses, as well as symptoms of agitation, irritability, and delirium. Haloperidol is used widely in different countries. It is available in various forms; the...
Viral Sepsis
smpdb.ca/view/SMP0125490DiseaseViral sepsis begins when viral coat proteins activate the Toll-like receptors TLR4 and TLR2 on the membranes of macrophages, T-cells and dendritic cells. In addition to this protein activation, the viral DNA (or RNA if it is an RNA virus...
Hyperprolinemia Type II
smpdb.ca/view/SMP0125624DiseaseHyperprolinemia Type II (HPII), also known as 1-pyrroline-5-carboxylate dehydrogenase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the arginine and proline metabolism pathway. It i...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreHyperornithinemia with Gyrate Atrophy (HOGA)
smpdb.ca/view/SMP0125630DiseaseHyperornithinemia with gyrate atrophy (HOGA), also known as gyrate atrophy of the choroid and retina, OAT deficiency, ornithine aminotransferase deficiency, ornithine keto acid aminotransferase deficiency) is an autosomal recessive disor...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreHyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH-syndrome)
smpdb.ca/view/SMP0125633DiseaseHyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle caused by a defective SLC25A15 gene. SLC25A15 codes for the mitochondrial ornithine carrier (ORC1) which transports or...
L-Arginine:Glycine Amidinotransferase Deficiency
smpdb.ca/view/SMP0125634DiseaseArginine:glycine amidinotransferase deficiency, also called AGAT deficiency, is an extremely rare inherited inborn error of metabolism (IEM) and an autosomal recessive disorder caused by a defective arginine:glycine amidinotransferase (A...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreDihydropyrimidinase Deficiency
smpdb.ca/view/SMP0125719DiseaseDihydropyrimidinase Deficiency (DHPA, Dihydropyrimidinuria Deficiency, DPH Deficiency) is an autosomal recessive disease caused by a mutation in the DPYS gene which codes for dihydropyrimidinase. A deficiency in this enzyme results in ac...