Transient myelodysplasia triggered by parvovirus B19 infection in a male with inborn error of bile acid metabolism

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

“…IEBAM is characterized by the accumulation of unusual bile acids or bile alcohols, which are intermediate metabolites in the bile acid synthesis pathway, in hepatocytes and the development of bile stasis-related liver damage (1). Currently, deficiencies in eight enzymes have been associated with IEBAM (Table 1), five of which have been reported in Japan: 3β-hydroxy-Δ 5 -C 27 -steroid dehydrogenase/isomerase (HSD3B7) deficiency (OMIM 607765), Δ 4 -3-oxosteroid 5β-reductase (SRD5B1) deficiency (OMIM 235555), 27-sterol hydroxylase (CYP27A1) deficiency (OMIM 213700), oxysterol 7α-hydroxylase (CYP7B1) deficiency (OMIM 603711), and bile acid conjugation defect-1 caused by a bile acid-CoA:amino acid N-acyltransferase (BAAT) gene mutation (bile acid conjugation defect-1: BACD1, MIM 619232) (2)(3)(4)(5). In four of these conditions (except CYP27A1 deficiency), cholestatic liver injury develops between the neonatal and infancy periods, and it is thus essential to distinguish IEBAM from biliary atresia (BA), which requires surgical intervention.…”

“…The Junshin Clinic Bile Acid Institute has performed urinary bile acid analyses in cholestasis of unknown cause since 1996 (8), with 10 cases of IEBAM noted (2)(3)(4)(5)9). In 2 of the 10 IEBAM cases (20%), open cholangiography, an invasive procedure, was performed to exclude BA (9,10).…”