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Lysosomal Acid Lipase Deficiency (Wolman Disease)
smpdb.ca/view/SMP0125640DiseaseLysosomal Acid Lipase Deficiency, also known as Wolman disease, is predictably enough the result of a specific defect in lysosomal acid lipase. The defect results from a mutation on the 10th chromosome to the LIPA gene. Of interest is th...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreTransaldolase Deficiency
smpdb.ca/view/SMP0125655DiseaseTransaldolase deficiency, also known as Eyaid syndrome or TALDO deficiency, is a desease caused by homozygous or compound heterozygous mutations in the TALDO1 gene that encodes for transaldolase. The mutation found in one study was a bas...
Drugs: Adenosine phosphate · ATP · Magnesium cation · Iron · 5-O-phosphono-alpha-D-ribofuranosyl diphosphate · D-glyceraldehyde 3-phosphate +4 moreMNGIE (Mitochondrial Neurogastrointestinal Encephalopathy)
smpdb.ca/view/SMP0125720DiseaseMyoneurogastrointestinal encephalopathy, or mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), is a multisystem disorder caused by mutations in the gene encoding thymidine phosphorylase, which normally uses thymidine an...
Folate Malabsorption, Hereditary
smpdb.ca/view/SMP0125747DiseaseHereditary folate malabsorption, also known as folic acid transport defect, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the folate metabolism pathway. It is caused by a defect in the SLC46A1 ...
Refsum Disease
smpdb.ca/view/SMP0125805DiseaseAdult Refsum Disease (Classic Refsum Disease; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneurtiformis; Hereditary Motor and Sensory Neuropathy IV; HSMN4; Adult Refsum Disease I; Adult Refsum Disease II), can be caused by...
Pemetrexed Action Pathway
smpdb.ca/view/SMP0126261Drug actionPemetrexed is an antifolate, it contains a pyrrolopyrimidine base within its structure that inhibits DNA synthesis and de novo biosynthesis of nucleotides. Once inside the cell via a folate transporter, it is converted to by folylpolyglu...
Duloxetine SNRI - Dopamine Norepinephrine Inhibition Action Pathway
smpdb.ca/view/SMP0126450Drug actionDuloxetine is a serotonin norepinephrine reuptake inhibitor used to treat generalized anxiety disorder, neuropathic pain, osteoarthritis, and stress incontinence. It blocks both sodium dependent serotonin and sodium dependent norepinephr...
Methylphenidate Norepinephrine Reuptake Inhibitor Action Pathway
smpdb.ca/view/SMP0126572Drug actionMethylphenidate, known commonly as Ritalin, is a central nervous system stimulant used mainly for ADHD, but also for narcolepsy. ADHD is caused by an abnormality in the dopamine transporter gene (DAT1), the D4 receptor gene (DRD-4), and/...
Drugs: Pyridoxal phosphate · Ascorbic acid · Tyrosine · ATP · Norepinephrine · Methylphenidate +7 morePergolide Mechanism of Action Action Pathway
smpdb.ca/view/SMP0126635Drug actionThe dopamine D2 receptor is a 7-transmembrane G-protein coupled receptor associated with Gi proteins. In lactotrophs, stimulation of dopamine D2 receptor causes inhibition of adenylyl cyclase, which decreases intracellular cAMP concentra...
Ergoloid mesylate Mechanism of Action Action Pathway
smpdb.ca/view/SMP0126658Drug actionErgoloid Mesylate is an equiproportional preparation of three different ergotamantriones: dihydroergocornine, dihydroergocristine, and dihydroergocryptine. All these components are produced by the fungus Claviceps purpurea and are all de...