Tunisian researchers identify rare genetic liver disease and new genetic variant

This rare genetic liver disease was studied in patients diagnosed between 2013 and 2024, marking the first case series on BASD reported in the country. The research also uncovered a new genetic variant associated with one of the deficiencies causing the disease. BASD are hereditary genetic disorders that can lead to liver damage, cholestasis, and issues with fat-soluble vitamin absorption.

These conditions stem from anomalies in the body's production of essential bile acids for digestion and metabolic functions. The study identified six male patients from three unrelated families, with symptom onset ranging from the neonatal period to eight years of age. Significant diagnostic delays, from 1.5 months to five years, were also noted.

Clinical presentations varied, including cholestasis in three patients, malabsorption in four, and liver damage without cholestasis in one, highlighting diagnostic challenges. Genetically, four patients had 3β-hydroxysteroid dehydrogenase deficiency; three brothers among them carried a new homozygous variant of the HSD3B7 gene c.748_760del. Another patient had Δ⁴-3-oxosteroid 5β-reductase deficiency linked to a known AKR1D1 gene variant.

Early diagnosis is crucial, as three patients treated with cholic acid showed complete clinical