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Hyperprolinemia Type II
smpdb.ca/view/SMP0000360DiseaseHyperprolinemia 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 … Symptoms include hydroxyprolinuria and hyperglycinuria, and can include seizures and some amount of mental retardation.
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreProlinemia Type II
smpdb.ca/view/SMP0125627DiseaseSymptoms include mental retardation, acute and chronic renal failure, and seizures. … An enzyme defect causes accumulation of glycine, hydroxyproline and proline in the urine, ornithine in the serum and proline in plasma.
Drugs: Pyridoxal phosphate · Ademetionine · Arginine · Aspartic acid · Ornithine · Adenosine phosphate +21 moreAbciximab Action Pathway
smpdb.ca/view/SMP0121127Drug actionAbciximab is an antigen binding fragment that targets glycoprotein IIb/IIIa receptors on the outer membrane of platelets. … It is administered intravenously, and can act to decrease platelet aggregation for up to two days after administration.
Enzymes: Integrin alpha-IIbHyperlysinemia II or Saccharopinuria
smpdb.ca/view/SMP0000528DiseaseSaccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type II) is an autosomal recessive disease … characterized by high concentrations of saccharopine in the plasma and urine.It is caused by the deficiency of the enzyme alpha-aminoadipic semialdehyde synthase (AASS).
Drugs: Pyridoxal phosphate · Lysine · Glutamic acid · NADH · Oxogluric acid · Flavin adenine dinucleotide +1 morePrimary Hyperoxaluria II, PH2
smpdb.ca/view/SMP0000558DiseasePH2 results in calcium oxalate (also known as oxalic acid) deposits and end-stage renal disease. These deposits may cause kidney damage or failure.
Mitochondrial Complex II Deficiency
smpdb.ca/view/SMP0125754DiseaseSDH or complex II is assembled via the action of two assembly factors (SDHAF1 and SDHAF2). Mutations in SDHA and SDHAF1 are most commonly found in patients with CII deficiency. … The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood.
Mitochondrial Complex II Deficiency
smpdb.ca/view/SMP0000548DiseaseSDH or complex II is assembled via the action of two assembly factors (SDHAF1 and SDHAF2). Mutations in SDHA and SDHAF1 are most commonly found in patients with CII deficiency. … The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood.
Primary Hyperoxaluria II, PH2
smpdb.ca/view/SMP0125773DiseasePH2 results in calcium oxalate (also known as oxalic acid) deposits and end-stage renal disease. These deposits may cause kidney damage or failure.
Fondaparinux.
smpdb.ca/view/SMP0000273Drug actionIn the blood capillary bed, Fondaparinux sodium activates antithrombin III. … This enzyme also catalyzes precursors of prothrombin and coagulation factors VII, IX and X to prothrombin and coagulation factors VII, IX and X.
Enzymes: Antithrombin-IIIHeparin.
smpdb.ca/view/SMP0000274Drug actionActivated antithrombin III will inactive prothrombin and factor Xa (also other proteases). … More specifically, heparin will bind to the antithrombin III (AT) that make antithrombin III changing to its activated form.
Enzymes: Antithrombin-III