Bile Acid Synthesis Disorders (BASDs) are a group of rare genetic conditions that affect the production of bile acids in the liver. Bile acids play a crucial role in the digestion and absorption of dietary fats. In BASDs, there is a disruption in the normal synthesis of bile acids, leading to a deficiency or accumulation of certain bile acid intermediates.
Symptoms: The symptoms of BASDs can vary depending on the specific disorder and the severity of the condition. Common symptoms may include jaundice (yellowing of the skin and eyes), hepatomegaly (enlarged liver), liver dysfunction, poor growth, and fat malabsorption.
Diagnosis: BASDs are typically diagnosed through a combination of clinical evaluation, biochemical testing, and genetic analysis. Blood tests can reveal abnormal levels of bile acids and other liver function markers. Genetic testing can identify specific mutations associated with BASDs.
Treatment: Treatment for BASDs aims to manage symptoms and prevent complications. This may involve dietary modifications, such as a low-fat diet or supplementation with specific bile acid intermediates. In some cases, liver transplantation may be necessary for severe liver dysfunction.
Prognosis: The prognosis for individuals with BASDs can vary depending on the specific disorder and its severity. Early diagnosis and appropriate management can help improve outcomes and prevent complications. Regular monitoring and follow-up with healthcare professionals are important for individuals with BASDs.