Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.

OBJECTIVES

Inborn errors of bile acid synthesis are rare genetic disorders that usually present as neonatal cholestasis and liver disease in older children and adults. The symptomatology of inborn errors of bile acid synthesis can markedly vary among individuals, ranging from mild to severe conditions. Diagnosis is based on genetic tests and/or urine liquid secondary ionization mass spectrometry. Here, we have described characteristics of patients who were diagnosed with inborn errors of bile acid synthesis in our department.

MATERIALS AND

METHODS

We retrospectively evaluated data from patients diagnosed with inborn errors of bile acid synthesis by urine bile acid analysis and/or genetic tests between 2013 and 2023.

RESULTS

Ten patients (8 boys, 2 girls) born to consanguineous parents were diagnosed with inborn errors of bile acid synthesis during the study period. Six patients were diagnosed with 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency, 2 patients with peroxisomal acyl-CoA oxidase 2 deficiency, and 2 patients with peroxisome biogenesis disorder. In patients with 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency, 3 patients were monitored with cholic acid treatment, 2 underwent liver transplant due to liver failure, and 1 patient died from liver failure. Ursodeoxycholic acid treatment was given to patients with acyl-CoA oxidase 2 deficiency. Cholic acid was given to patients with peroxisome biogenesis disorder.

CONCLUSIONS

Inborn errors of bile acid synthesis can cause a variety of liver diseases, from asymptomatic liver enzyme elevation to cirrhosis. Clinical findings may include neurological symptoms and fat and fat-soluble vitamin malabsorption complications. Deficiency of 3β-hydroxy-Δ5-C27-steroid dehydrogenase is the most common bile acid synthetic defect presenting in cholestasis in infancy and childhood. Cholic acid is effective for most patients with inborn errors of bile acid synthesis. If patients do not receive an early diagnosis, progressive liver disease or other serious complications may develop.