Bile Acid Synthesis Disorders info sheet
Bile Acid requisition form
Informed Consent form for Bile Acid Testing – New York state patients only
Related terminology: Bile acids, urine by FAB-MS (FAB, FABs, UBA), urinary bile acids by fast atom bombardment
Associated disorders: Bile acid synthetic disorders, bile acid synthesis, Zellweger disorder, peroxisomal biogenesis syndromes, peroxisomopathy, 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency, 3β-hydroxy-Δ5-C27-steroid dehydrogenase / isomerase, 3β-HSD, Δ4-3-oxosteroid 5β-reductase deficiency, 5β-reductase deficiency, sterol 27-hydroxylase deficiency, CTX, oxysterol 7α-hydroxylase deficiency, 2-methylacyl-CoA racemase deficiency, bile acid conjugation defects, bile acid amidation defects, bile acid-CoA ligase deficiency, bile acid-CoA:N-acyl amino acid transferase deficiency
Associated genes: HSD3B7, AKR1D1, CYP27A1, CYP7B1, AMACR, SLC27A5, BAAT