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Familial Hypercholanemia (FHCA)
smpdb.ca/view/SMP0000317DiseaseFamilial 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...
Congenital Bile Acid Synthesis Defect Type III
smpdb.ca/view/SMP0125690DiseaseCongenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via t...
Congenital Bile Acid Synthesis Defect Type II
smpdb.ca/view/SMP0000314DiseaseCongenital 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...
Cerebrotendinous Xanthomatosis (CTX)
smpdb.ca/view/SMP0000315DiseaseCerebrotendinous Xanthomatosis, also called CTX, 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 is responsible for encoding ...
Zellweger Syndrome
smpdb.ca/view/SMP0000316DiseaseZellweger 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 ...
Congenital Bile Acid Synthesis Defect Type III
smpdb.ca/view/SMP0000318DiseaseCongenital Bile Acid Synthesis Defect Type III (CBASIII) is caused by a defect in 25-hydroxycholesterol 7-alpha-hydroxylase, which plays a role in synthesis of bile acids. The synthesis of primary bile acids from cholesterol occurs via t...
27-Hydroxylase Deficiency
smpdb.ca/view/SMP0000720DiseaseSterol 27-hydroxylase is a mitochondrial cytochrome P-450 species (CYP27) that catalyzes the first step in the degradation of steroid side chain in cholesterol to produce bile acids in the liver. When there are low concentrations of 27-H...
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 ...