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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/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.
Sulfite Oxidase Deficiency
smpdb.ca/view/SMP0125709DiseaseSulfite oxidase deficiency (SOD) is a disorder, an autosomal recessive disease. … In classic SOD, it is usually identified a few days after the birth of an affected individual, and is recognizable through characteristic dysmorphic features, seizures, and other signs of progressive encephalopathy
Enzymes: Sulfite oxidase, mitochondrialSulfite Oxidase Deficiency
smpdb.ca/view/SMP0000532DiseaseSulfite oxidase deficiency (SOD) is a disorder, an autosomal recessive disease. … In classic SOD, it is usually identified a few days after the birth of an affected individual, and is recognizable through characteristic dysmorphic features, seizures, and other signs of progressive encephalopathy
Enzymes: Sulfite oxidase, mitochondrialAcylcarnitine 4-hydroxy-5-[3-(sulfooxy)phenyl]pentanoylcarnitine
smpdb.ca/view/SMP0123463MetabolicAs part of this process, 4-hydroxy-5-[3-(sulfooxy)phenyl]pentanoic acid is first transported into the cell via the long-chain fatty acid transport protein 1 (FATP1). … The general role of acylcarnitines is to transport acyl-groups, organic acids and fatty acids, from the cytoplasm into the mitochondria so that they can be broken down to produce energy.
Drugs: Biotin · Adenosine phosphate · ATP · Levocarnitine · Magnesium cation · Pyrophosphoric acid +1 moreEnzymes: Long-chain-fatty-acid--CoA ligase 1, Long-chain fatty acid transport protein 1Oxidation 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 1