Resolution of liver biopsy alterations in three siblings with bile acid treatment of an inborn error of bile acid metabolism (Δ4‐3‐oxosteroid 5β‐reductase deficiency)
Ynthia C. Daugherty, Kenneth D. R. Setchell, James E. Heubi, William F. Ballstreri – 1 November 1993 – Identical male twins and their brother, cholestatic from birth, with Δ4‐3‐oxosteroid 5δ‐reductase deficiency, were studied by serial liver biopsy. Spectrometry documented defective primary bile acid synthesis and markedly increased levels of atypical oxo and allo bile acids in urine and serum. Hepatocellular cholestásis and giant‐cell transformation resolved in parallel with clinical and biochemical recovery during oral bile acid administration.