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Congenital 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 synthaseMetabolism and Physiological Effects of 3-Deoxyglucosone
smpdb.ca/view/SMP0125516MetabolicAn amino acid like arginine or lysine are combined with glucose to make a schiff base and water. The schiff base is unstable so it becomes the stable amadori product. … It normally is synthesized and accumulates with high serum glucose due to diabetes. 3-deoxyglucosone causes cell apoptosis and neurotoxicity.
Metabolism and Physiological Effects of N-Acetylproline
smpdb.ca/view/SMP0126660MetabolicN-Acetylproline can also be classified as an alpha amino acid or a derivatized alpha amino acid. … Technically, N-Acetylproline is a biologically available N-terminal capped form of the proteinogenic alpha amino acid L-proline.
Metabolism and Physiological Effects of N-Acetylvaline
smpdb.ca/view/SMP0126701MetabolicThe human NatA complex co-translationally acetylates N-termini that bear a small amino acid (A, S, T, C, and occasionally V and G). … N-Acetylvaline can also be classified as an alpha amino acid or a derivatized alpha amino acid.
Drugs: ValineMetabolism and Physiological Effects of N-Acetylmethionine
smpdb.ca/view/SMP0126707MetabolicThe human NatA complex co-translationally acetylates N-termini that bear a small amino acid (A, S, T, C, and occasionally V and G). … N-Acetylmethionine can also be classified as an alpha amino acid or a derivatized alpha amino acid.
Metabolism and Physiological Effects of N-Acetylhistidine
smpdb.ca/view/SMP0126711MetabolicThe human NatA complex co-translationally acetylates N-termini that bear a small amino acid (A, S, T, C, and occasionally V and G). … N-Acetylhistidine can also be classified as an alpha amino acid or a derivatized alpha amino acid.
Drugs: Histidine