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Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.

Medicine - 24 Jun 2022

Pham Anh-Hoa Nguyen, Thi Kim-Oanh Bui, Thi Mai-Huong Nguyen, Ngo Diem-Ngoc, Naritaka Nakayuki, Nittono Hiroshi, Hayashi Hisamitsu, Dao Trang Thi, Nguyen Kim-Huong Thi, Nguyen Hoai-Nghia, Giang Hoa, Tang Hung-Sang, Nguyen Tat-Thanh, Truong Dinh-Kiet, Tran Minh-Dien

Abstract excerpt

RATIONALE: Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for early treatment with bile acid replacement therapy, with an excellent chance for recovery. In contrast, protracted diagnosis and treatment may lead to poor outcomes, including...

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PMID: 35758383
DOI: 10.1097/MD.0000000000029476
PMCID: PMC9276355

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Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports.PMID 35758383Read ↗

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