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Vasopressin Regulation of Water Homeostasis
smpdb.ca/view/SMP0000322Signaling(AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. … The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin
Galactosemia III
smpdb.ca/view/SMP0000496DiseaseGalactosemia III also called GALE deficiency or UDP-Galactose-4-Epimerase deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by either a homozygous or compound … Symptoms are similar to classic galactosemia, including jaundice, vomiting, hypotonia, failure to thrive, hepatomegaly, moderate generalized amino aciduria and marked galactosuria.
Galactosemia III
smpdb.ca/view/SMP0125607DiseaseGalactosemia III also called GALE deficiency or UDP-Galactose-4-Epimerase deficiency, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by either a homozygous or compound … Symptoms are similar to classic galactosemia, including jaundice, vomiting, hypotonia, failure to thrive, hepatomegaly, moderate generalized amino aciduria and marked galactosuria.
3-Methylglutaconic Aciduria Type III
smpdb.ca/view/SMP0125667DiseaseA deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration. … 3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein.
Human Thrombin Action Pathway
smpdb.ca/view/SMP0126872Drug actionHuman thrombin is a platelet-activating factor also known under the brand names Artiss, Evarrest, Evicel, Evithrom, Tachosil, Tisseel and Vistaseal. … Human thrombin is purified human thrombin, a highly specific serine protease that acts on fibrinogen to fibrin, leading to the formation of a blood clot.
Drugs: Calcium17-beta Hydroxysteroid Dehydrogenase III Deficiency
smpdb.ca/view/SMP0125781Disease17-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 estrogen metabolism pathway.
Antihemophilic Factor Human Action Pathway
smpdb.ca/view/SMP0126841Drug actionAntihemophilic factor human, also known as Hemofil, Koate, and Wilate is used as factor VIII replacement therapy to treat hemophilia A. … Administered intravenously the antihemophilic factor human replaces the abnormal coagulation factor VIII, acting as a cofactor to activate coagulation factor IX and X.
3-Methylglutaconic Aciduria Type III
smpdb.ca/view/SMP0000140DiseaseA deficiency of this enzyme results in accumulation of 3-methylglutaconic acid and methylglutaric acid. Symptoms include ataxia, dysarthria, optic atrophy, and neurological deterioration. … 3-Methylglutaconic aciduria type 3 (Costeff syndrome; Optic atrophy plus syndrome) is an autosomal recessive disease caused by a deficiency in the OPA3 code which does for optic atrophy 3 protein.
Antihemophilic Factor Human Recombinant Action Pathway
smpdb.ca/view/SMP0126774Drug actionAntihemophilic factor, human recombinant is administered intravenously and acts to correct coagulation defects, by activating coagulation factor X and IX. … and Factor XIII deficiency.
Coagulation Factor VII Human Action Pathway
smpdb.ca/view/SMP0126839Drug actionCoagulation factor VII human is a coagulation factor also known as Balfaxar, Beriplex, Kcentra and Octaplex to treat hemophilia and Glanzmann's thrombasthenia. … It is administered intravenously it acts in combination with tissue factor activating coagulation factor VIIa, which goes on to subsequently activate coagulation factor X and IX leading to blood clotting