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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 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/SMP0125740DiseaseLong Chain Acyl CoA Dehydrogenase Deficiency (LCADD) is a rare disorder that is inherited through an autosomal recessive trait, and prevents the body from properly metabolizing very long chain fatty acids … To help control acute episodes, treatment includes maintaining a high carbohydrate and low fat diet, and avoiding fasting for more than 12 hours.
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.
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 … Now moving to the mitochondria, there are four reactions that occur, and are repeated for each molecule of the fatty acid.
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 oxidation of fatty acid chains is a process of progress through repetition.
Enzymes: Long-chain-fatty-acid--CoA ligase 1