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Prolinemia Type II
smpdb.ca/view/SMP0000208DiseaseProlinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in ...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainOrnithine Aminotransferase Deficiency (OAT Deficiency)
smpdb.ca/view/SMP0000363DiseaseOrnithine aminotransferase deficiency (OAT deficiency, ornithine keto acid aminotransferase deficiency, OKT deficiency, ornithine-delta-aminotransferase deficiency, gyrate atrophy of the choroid and retina) is an autosomal recessive diso...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainHyperornithinemia-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 moreEnzymes: Nitric oxide synthase, brainHyperprolinemia 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 moreEnzymes: Nitric oxide synthase, brainHyperornithinemia-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...
Enzymes: Nitric oxide synthase, brainL-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 moreEnzymes: Nitric oxide synthase, brainHyperprolinemia Type I
smpdb.ca/view/SMP0125626DiseaseHyperprolinemia type I (HPI, proline oxidase deficiency) is caused by mutation in the proline dehydrogenase gene (PRODH), which codes for proline dehydrogenase (proline oxidase). This enzyme converts proline to delta-1-pyrroline-5-carbox...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainProlinemia Type II
smpdb.ca/view/SMP0125627DiseaseProlinemia Type II is caused by mutation in the pyrroline-5-carboxylate dehydrogenase gene (P5CDH) mitochondrial matrix NAD-dependent dehydrogenase. This dehydrogenase is a catalyst for converting pyrroline-5-carboxylate to glutamate in ...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainOrnithine Aminotransferase Deficiency (OAT Deficiency)
smpdb.ca/view/SMP0125629DiseaseOrnithine aminotransferase deficiency (OAT deficiency, ornithine keto acid aminotransferase deficiency, OKT deficiency, ornithine-delta-aminotransferase deficiency, gyrate atrophy of the choroid and retina) is an autosomal recessive diso...
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreEnzymes: Nitric oxide synthase, brainDoxorubicin Metabolism Pathway
smpdb.ca/view/SMP0000650Drug metabolismA second route is one-electron reduction resulting in a doxorubicin-semiquinone, which can be undertaken by NADH dehydrogenases in the sarcoplasmic reticulum or mitochondrion, or nitric oxide synthases
Enzymes: Nitric oxide synthase, endothelial