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Wolman Disease
smpdb.ca/view/SMP0000511DiseaseIn Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concent...
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreMonoamine Oxidase-A Deficiency (MAO-A)
smpdb.ca/view/SMP0000533DiseaseMomoamine oxidase A (MAO-A) deficiency, or Brunner syndrome, is an X-linked recessive genetic disorder caused by a mutation in the MAOA gene that encodes for monoamine oxidase A. As such it is almost exclusively found in men. MAO-A is an...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 moreFolate Malabsorption, Hereditary
smpdb.ca/view/SMP0000724DiseaseHereditary 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 ...
Metabolism and Physiological Effects of Uridine
smpdb.ca/view/SMP0124871MetabolicUridine, also known as beta-uridine or 1-beta-D-ribofuranosylpyrimidine-2,4(1H,3H)-dione, is a member of the class of compounds known as pyrimidine nucleosides. Pyrimidine nucleosides are compounds comprising a pyrimidine base attached t...
Pseudoephedrine Action Pathway
smpdb.ca/view/SMP0125255Drug actionPseudoephedrine is alpha and beta agonist used to treat nasal and sinus congestion as well as allergic rhinitis. It is in many cold and sinus medicines as well as allergy medicine. Pseudoephedrine's mechanism of action mainly occurs in t...
Drugs: Ascorbic acid · Norepinephrine · Pseudoephedrine · Dopamine · Calcium · Magnesium cation +1 moreHawkinsinuria
smpdb.ca/view/SMP0125590DiseaseHawkinsinuria (4-Hydroxyphenylpyruvate Hydroxylase Deficiency) is an autosomal dominant disease caused by a mutation in the HPD gene which codes for 4-hydroxyphenylpyruvate dioxygenase. A deficiency in this enzyme results in accumulation...
Drugs: Pyridoxal phosphate · Ademetionine · Ascorbic acid · Aspartic acid · Tyrosine · Glutamic acid +20 morePhenylketonuria
smpdb.ca/view/SMP0125602DiseasePhenylketonuria, also called Folling disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that affects the proper processing of phenylalanine caused by a defective phenylalanine hydroxylase. Phenylalanine ...
Drugs: Pyridoxal phosphate · Phenylalanine · L-Glutamine · Adenosine phosphate · Tyrosine · Glutamic acid +17 moreGalactosemia II (GALK)
smpdb.ca/view/SMP0125606DiseaseGalactokinase deficiency also called Galactosemia type II, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of galactokinase caused by a mutation in the GALK1 gene on chromosome 17q24. Galactokinase uses 1 A...
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 more