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Dopamine beta-Hydroxylase Deficiency
smpdb.ca/view/SMP0125594DiseaseDopamine beta-hydroxylase deficiency (or norepinephrine deficiency) is caused by mutation in the gene encoding dopamine beta-hydroxylase. Clinical features include orthostatic hypotension, ptosis, nasal stuffiness, and a neonatal history...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreTyrosinemia Type 2 (or Richner-Hanhart Syndrome)
smpdb.ca/view/SMP0125603DiseaseTyrosinemia II also known as Richner-Hanhart syndrome is an autosomal recessive disorder caused by a mutation in the TAT gene the encodes for tyrosine aminotransferase. A defect in this enzyme causes excess tyrosine to accumulate in the ...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreTyrosinemia Type 3 (TYRO3)
smpdb.ca/view/SMP0125605DiseaseTyrosinemia type 3, one of the three types of tyrosinemia, is a rare disorder with only a few reported cases. Tyrosinemia type 3 results from a defect in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. 4-Hydroxyphenylpy...
Drugs: Pyridoxal phosphate · Phenylalanine · Adenosine phosphate · Tyrosine · Glutamic acid · ATP +11 moreSmith-Lemli-Opitz Syndrome (SLOS)
smpdb.ca/view/SMP0125635DiseaseThe autosomal recessive disorder Smith-Lemli-Opitz Syndrome (SLOS; SLO Syndrome; RSH; Rutledge Lethal Multiple Congenital Anomaly, Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung; Lethal Acrodysgenital Syndrome) ...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreGlucose-6-phosphate Dehydrogenase Deficiency
smpdb.ca/view/SMP0125653DiseaseGlucose-6-phosphate dehydrogenase deficiency, also called G6PDD, is a very common inherited inborn error of metabolism (IEM) that is characterized by a defect in the glucose-6-phosphate dehydrogenase gene. Glucose-6-phosphate dehydrogena...
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreRibose-5-phosphate Isomerase Deficiency
smpdb.ca/view/SMP0125654DiseaseRibose-5-phosphate isomerase (RPI) deficiency, is a genetic disorder caused by mutations in the RPIA gene that codes for RPI. RPI is an enzyme that is involved in the pentose phosphate pathway as part of carbohydrate degradation. It reve...
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 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...
Pafolacianine Action Pathway
smpdb.ca/view/SMP0126305Drug actionPafolacianine is a folate analogue used for the treatment of ovarian cancer. It targets the folate receptor in cancer cells where they are overexpressed. Pafolacianine binds to the receptor and is absorbed via receptor-mediated endocytos...
Clemastine H1-Antihistamine Blood Vessel Constriction Action Pathway
smpdb.ca/view/SMP0126421Drug actionClemastine is a first-generation ethanolamine H1-antihistamine. H1-antihistamines interfere with the agonist action of histamine at the H1 receptor and are administered to attenuate inflammatory process in order to treat conditions such ...
Pramipexole Mechanism of Action Action Pathway
smpdb.ca/view/SMP0126459Drug actionPramipexole is indicated for the management of Parkinson's disease and symptomatic treatment of moderate to severe primary Restless Legs Syndrome (RLS). Pramipexole likely restores balance to the dopaminergic system, controlling the symp...