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Iocetamic acid Predicted Metabolism Pathway
smpdb.ca/view/SMP0174586MetabolicMetabolites of Iocetamic acid are predicted with biotransformer.
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. … Wolman disease is characterized by increased transaminases in serum, and increased cholesteryl esters and triglycerides in various tissues.
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. … Wolman disease is characterized by increased transaminases in serum, and increased cholesteryl esters and triglycerides in various tissues.
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/SMP0125690DiseaseCBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure. … 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
Glutaric Aciduria Type I (Fatty Acid Metabolism)
smpdb.ca/view/SMP0125737DiseaseA deficiency in this enzyme results in accumulation of 3-hydroxybutyric acid, 3-hydroxyglutaric acid, glutaconic acid, glutaric acid, and ketone bodies in urine. … Symptoms include encephalopathy, grimacing, dystonia, metabolic acidosis, and hygroma. Treatment includes a low-protein diet, L-carnitine, riboflavin, and anticonvulsants.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +4 moreEnzymes: Long-chain-fatty-acid--CoA ligase 1Congenital Bile Acid Synthesis Defect Type II
smpdb.ca/view/SMP0000314DiseaseChenodeoxycholic acid and cholic acid are decreased in plasma and urine. … Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
Congenital Bile Acid Synthesis Defect Type III
smpdb.ca/view/SMP0000318DiseaseCBASIII is characterized by accumulation of bile acids in the urine. Symptoms include severe cholestasis, cirrhosis, and liver failure. … 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. … Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.
Salla Disease/Infantile Sialic Acid Storage Disease
smpdb.ca/view/SMP0125714DiseaseThere are three forms of Salla disease: infantile free sialic acid storage disease (ISSD), Salla disease, and intermediate severe Salla disease. … Salla disease, also called sialic acid storage disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of lysosomal storage caused by a defective SLC17A5 gene.
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1Salla Disease/Infantile Sialic Acid Storage Disease
smpdb.ca/view/SMP0000240DiseaseThere are three forms of Salla disease: infantile free sialic acid storage disease (ISSD), Salla disease, and intermediate severe Salla disease. … Salla disease, also called sialic acid storage disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of lysosomal storage caused by a defective SLC17A5 gene.
Enzymes: Sialic acid synthase, Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1