Differential diagnosis in patients with suspected bile acid synthesis defects

Figure 1 The metabolic pathway of bile acid biosynthesis. The classical “neutral pathway” with chenodeoxycholic acid and cholic acid as end products is the main pathway in adults. In children, the alternative “acidic pathway” with chenodeoxycholic acid as major product is more active. The end products are exported as glycine or taurine conjugates into the bile canaliculi. Known metabolic blocks are displayed as bars and the specific defects in italic script. CTX: Cerebrotendinous xanthomatosis.