부산대학교 도서관

Introduction: Bile acid synthesis disorder is a very rare autosomal recessive disorder, which is mainly diagnosed by detecting mutations in the genes encoding enzymes that are involved in bile metabolism, including Δ4-3-oxosteroid-5β-reductase and 3β-Δ5-hydroxy-C27-steroid oxidoreductase. The enzymatic impairments can result in the accumulation of atypical and hepatotoxic bile acid intermediates, which clinically lead to cholestasis and progress to cirrhosis and hepatic failure. Herein, we describe a case of bile acid synthesis disorder diagnosed using molecular genetic assessment. Case Presentation: A 7-year-old girl is presented with failure to thrive since early in life. She had a history of urinary tract infection at four years of age. The sonography was performed at that time and revealed renal microcalculi. She also had a history of abdominal pain, nausea, and vomiting. She underwent upper endoscopies three times to rule out celiac disease; nevertheless, duodenal biopsies were all reported as normal. Muscle weakness was detected at five years of age and electromyography and muscle biopsy findings were non-specific. She underwent a whole-genome study and was diagnosed with bile acid synthesis disorder (BASD). After six months, she was treated with ursodeoxycholic acid, 250 mg, which led to growth compensation and liver enzyme reduction. No adverse effect was reported during the treatment. Conclusions: Bile acid synthesis disorder is a rare disorder with non-specific features and several organ involvements. It may take several years to achieve the correct diagnosis. To our knowledge, this is the first genetically confirmed case of bile acid synthesis disorder reported in Iran. [ABSTRACT FROM AUTHOR]