Bile Acid Synthesis Disorders in Arabs: A 10-year Screening Study

Area of Science:

• Biochemistry
• Pediatric Gastroenterology
• Metabolic Disorders

Background:

• Bile acid synthesis disorders (BASDs) are rare but life-threatening metabolic liver diseases.
• Early identification and treatment are vital to prevent severe complications and mortality in affected children.

Purpose of the Study:

• To screen children with cholestasis or unexplained liver disease for BASD.
• To evaluate the efficacy of cholic acid therapy in children diagnosed with BASD.

Main Methods:

• Serum total bile acid measurements were performed on pediatric patients.
• Diagnosis of BASD was confirmed using urine analysis (FAB-MS) and molecular testing.
• Treatment response to cholic acid was monitored via liver function tests and vitamin levels.

Main Results:

• Fifteen cases of BASD were diagnosed among 626 evaluated patients, primarily presenting with infantile cholestasis.
• Common BASD types included 3β-hydroxy-Δ-C27-steroid oxidoreductase dehydrogenase deficiency and Δ-3-oxosteroid 5β-reductase deficiency.
• Cholic acid therapy led to positive outcomes in 10 patients, while 3 experienced liver failure, with 2 deaths.

Conclusions:

• BASDs are rare, treatable causes of metabolic liver disease in Saudi Arabia.
• Consider BASD in infants presenting with cholestasis and normal or low serum total bile acid levels.