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Congenital Bile Acid Synthesis Defect Type II
smpdb.ca/view/SMP0125689DiseaseCongenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes t...
Familial Hypercholanemia (FHCA)
smpdb.ca/view/SMP0125695DiseaseFamilial Hypercholanemia can be caused by mutations in the TJP2, BAAT or EPHX1 genes which code for bile acid-CoA:amino acid N-acyltransferase, which plays a part in the metabolism of in bile acids. This enzyme plays a particularly impor...
Zellweger Syndrome
smpdb.ca/view/SMP0125696DiseaseZellweger syndrome, also known as cerebrohepatorenal syndrome, is an autosomal recessive peroxisome biogenesis disorder that is part of the family of Zellweger spectrum disorders. It is caused by a defect in one of 12 or more of the PEX ...
Bile Acid Biosynthesis
smpdb.ca/view/SMP0000035MetabolicA bile acids life begins as cholesterol is catabolized, as bile acid is a derivative of cholesterol. This pathway occurs in the liver, beginning with cholesterol being converted to 7a-hydroxycholesterol through the enzyme cholesterol-7-a...
Cerebrotendinous Xanthomatosis (CTX)
smpdb.ca/view/SMP0125697DiseaseCerebrotendinous Xanthomatosis, also called CTX or 27-Hydroxylase Deficiency, is a rare inborn error of metabolism (IEM) which results from a genetic mutation. More specifically, it is the result of a mutated CYP27A1 gene. This said gene...