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Lysosomal Acid Lipase Deficiency (Wolman Disease)
smpdb.ca/view/SMP0000319DiseaseLysosomal 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 moreMethotrexate Action Pathway
smpdb.ca/view/SMP0000432Drug actionMethotrexate is an antifolate antimetabolite used in the treatment of rheumatoid arthritis and cancer. Methotrexate is taken up into the cell by human reduced folate carriers (SLC19A1). In the cytoplasm, methotrexate is polyglutamated by...
Refsum Disease
smpdb.ca/view/SMP0000451DiseaseAdult 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...
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 heterozygous mutation in the UDP-...
Mevalonic Aciduria
smpdb.ca/view/SMP0000510DiseaseMevalonic aciduria, also called MVA, is an extremely rare inherited inborn error of metabolism (IEM) and an autosomal recessive disorder caused by a defective mevalonate kinase gene. It is manifested by high levels of mevalonic acid in t...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreGlucose-6-phosphate Dehydrogenase Deficiency
smpdb.ca/view/SMP0000518DiseaseGlucose-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/SMP0000519DiseaseRibose-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 moreTransaldolase Deficiency
smpdb.ca/view/SMP0000520DiseaseTransaldolase 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 moreMethylenetetrahydrofolate Reductase Deficiency (MTHFRD)
smpdb.ca/view/SMP0000543DiseaseMethylenetetrahydrofolate reductase deficiency (MTHFRD; Homocystinuria due to defect of n(5,10)-methylene THF deficiency) is caused by a defect in the MTHFR gene which codes for methylenetetrahydrofolate reductase. Methylenetetrahydrofol...
GLUT-1 Deficiency Syndrome
smpdb.ca/view/SMP0000580DiseaseGLUT1 deficiency syndrome, also called GLUT1-DS or De Vivo disease, is an autosomal dominant disorder and caused by a defective solute carrier family 2, facilitated glucose transporter member 1. Solute carrier family 2, facilitated gluco...