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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.
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseLysosomal 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.
Drugs: Cholecalciferol · ATP · Magnesium cation · Iron · Dimethylallyl Diphosphate · Formic acid +8 moreEnzymes: Lysosomal acid lipase/cholesteryl ester hydrolaseCongenital Bile Acid Synthesis Defect Type III
smpdb.ca/view/SMP0125690DiseaseCongenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. … The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct
Congenital Bile Acid Synthesis Defect Type II
smpdb.ca/view/SMP0000314DiseaseChenodeoxycholic acid and cholic acid are decreased in plasma and urine. … Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid
Congenital Bile Acid Synthesis Defect Type III
smpdb.ca/view/SMP0000318DiseaseCongenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. … The synthesis of primary bile acids from cholesterol occurs via two pathways: the classic neutral pathway involving cholesterol 7-alpha-hydroxylase (CYP7A1), and the acidic pathway involving a distinct
Congenital Bile Acid Synthesis Defect Type II
smpdb.ca/view/SMP0125689DiseaseChenodeoxycholic acid and cholic acid are decreased in plasma and urine. … Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid
Metabolism and Physiological Effects of Oxalic acid
smpdb.ca/view/SMP0124875MetabolicOxalic acid (oxalate) is a strong dicarboxylic acid that is also a known uremic toxin. It is produced in the body by metabolism of glyoxylic acid or ascorbic acid. … acid using the enzyme aspartate aminotransferase.
Drugs: Pyridoxal phosphate · Ascorbic acid · Succinic acid · Glutamic acid · Glycine · Proline +4 moreEnzymes: D-amino-acid oxidaseMetabolsim and Physiological Effects of Argininic acid
smpdb.ca/view/SMP0125504MetabolicGlutamic acid is carboxylated into 1-Pyrroline-5-carboxylic acid by the enzyme Delta-1-pyrroline-5-carboxylate synthase. 1-Pyrroline-5-carboxylic acid with glutaric acid synthesize Oxoglutaric acid and … This accumulation causes arginine to instead be converted into α-keto-δ-guanidinovaleric acid by transamination. α-Keto-δ-guanidinovaleric acid is then hydrogenated to form argininic acid.
Drugs: Pyridoxal phosphate · Arginine · Aspartic acid · Ornithine · L-Glutamine · Adenosine phosphate +10 moreEnzymes: D-amino-acid oxidase, Neutral amino acid transporter AMetabolism and Physiological Effects of 4-Hydroxyhippuric Acid
smpdb.ca/view/SMP0125537Metabolic4-Hydroxyhippuric, also known as 4-hydroxybenzoylglycine or 4-hydroxyhippate acid, is a metabolite of hippuric acid, and a uremic toxin. … Benzoyl-CoA is then catalyzed by the enzyme glycine N-acyltransferase and a glycine, which produces hippuric acid.
Oxidation of Branched-Chain Fatty Acids
smpdb.ca/view/SMP0000030MetabolicUnfortunately, traditional fatty acid oxidation does not work for branched-chain fatty acids, or fatty acids that do not have an even number of carbons, like the fatty acid phytanic acid, found in animal … In the majority of organisms, fatty acid degradation occurs mostly through the beta-oxidation cycle.
Enzymes: Long-chain-fatty-acid--CoA ligase 1