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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 synthaseSalla 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 synthaseLong Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) (Fatty Acid Metabolism)
smpdb.ca/view/SMP0125740DiseaseTo help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours. … Patients will also be at risk for hypertrophic cardiomyopathy and other heart conditions from age two months to two years.
Drugs: Adenosine phosphate · NADH · ATP · Levocarnitine · Magnesium cation · Flavin adenine dinucleotide +2 moreEnzymes: Long-chain-fatty-acid--CoA ligase 1Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (Fatty Acid Elongation in Mitochondria)
smpdb.ca/view/SMP0125748DiseaseLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. … HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present.
Indium In-111 oxyquinoline Drug Metabolism
smpdb.ca/view/SMP0130676MetabolicIndium In-111 oxyquinoline passes through the liver and is then excreted from the body mainly through the kidney. … Indium In-111 oxyquinoline is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis.
Drugs: Indium In-111 oxyquinolineIndium In-111 pentetate Drug Metabolism
smpdb.ca/view/SMP0130595MetabolicIndium In-111 pentetate passes through the liver and is then excreted from the body mainly through the kidney. … Indium In-111 pentetate is a drug that is not metabolized by the human body as determined by current research and biotransformer analysis.
Drugs: Indium In-111 pentetateOxidation of Branched-Chain Fatty Acids
smpdb.ca/view/SMP0000030MetabolicNow moving to the mitochondria, there are four reactions that occur, and are repeated for each molecule of the fatty acid. … Unfortunately, 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
Enzymes: Long-chain-fatty-acid--CoA ligase 1Beta Oxidation of Very Long Chain Fatty Acids
smpdb.ca/view/SMP0000052MetabolicWith each turn of the cycle two carbons are removed from the fatty acid chain and the energy of the chemical bonds once housed by the molecule is captured by the reduced energy carriers NADH and FADH2. … The reason the beta-oxidation cycle is found to occur in both mitochondria and peroxisomes in mammals is thought to be that extremely long chain fatty acids will in fact undergo oxidation in both locations
Enzymes: Long-chain-fatty-acid--CoA ligase 1