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Efficacy and safety of switching therapy from chenodeoxycholic acid to cholic acid in Japanese patients with bile acid synthesis disorders.
Mol Genet Metab Rep
December 2024
Division of Analysis Technology, Junshin Clinic, Bile Acid Institute, 2-1-24 Haramachi, Meguro-ku, Tokyo 152-0011, Japan.
Objectives: This study aimed to assess the safety and efficacy of cholic acid (CA) treatment over 74 weeks in Japanese patients with inherited enzymatic bile acid synthesis disorders (BASD).
Methods: This phase 3, open-label, single-arm study enrolled four Japanese patients diagnosed with BASD, including two with 3β-hydroxy- -C-steroid dehydrogenase/isomerase (HSD3B7) deficiency and two with -3-oxosteroid 5β-reductase (SRD5B1) deficiency. The patients had received chenodeoxycholic acid (CDCA) treatment but were switched to CA treatment.
Use of dried urine spots for screening of inborn errors of bile acid synthesis.
Pediatr Int
May 2019
Junshin Clinic BA Institute, Meguro, Tokyo, Japan.
Background: In pediatric patients with cholestasis of unknown cause, inborn errors of bile acid (BA) synthesis (IEBAS) may be considered. For the initial screening for IEBAS, clarification of the urine BA profile is essential. The transportation of urine in a frozen state via air delivery, however, is laborious and costly.
View Article and Find Full Text PDFNeonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.
Clin Chim Acta
October 2012
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
Background: Inborn errors of bile acid synthesis are rare genetic disorders that can present with cholestatic liver disease. Recently we encountered 3 infants with neonatal cholestasis and excessive 3β-monohydroxy-Δ⁵-C₂₄ bile acids in serum and urine. We investigated whether identification of 3β-hydroxy-5-cholestenoic acid and 27-hydroxycholesterol in serum and urine of cholestatic patients is necessary for diagnosis of primary oxysterol 7α-hydroxylase deficiency.
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