Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of liver disease with jaundice and malabsorption of lipids and vitamins from the gastrointestinal tract resulting from a primary failure to create bile acids. The symptoms are yellow skin and eyes and excess fat in the feces. Infants usually have a failure to gain weight and grow at the expected rate.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
The diagnosis of this disorder is done by certain examinations such as a specific serologic test and a liver biopsy may be performed to rule out more common causes of cholestasis. Laboratory analysis of certain body fluids (e.g. bile, blood, and urine) is necessary. Specialized techniques are known as fast atom bombardment-mass spectrometry (FABS-MS), electrospray ionization mass spectrometry (ESI-MS), and gas chromatography-mass spectrometry (GC-MS) may be used. Molecular genetic testing can confirm the diagnosis in some cases.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT TREATED?
The treatment of BASDs is directed toward the specific symptoms that are obvious to each individual. Treatment may require the coordinated efforts of a team of specialists which are Paediatricians, neurologists, liver specialists, nutritionists, and other healthcare professionals. Genetic counselling may be of benefit for affected individuals and their families. Replacement of the missing bile acids and cholic acid replacement therapy is beneficial in many cases. In some cases restoring vitamins A, D, E and K are essential for malabsorption. A liver transplant may be recommended in severe cases along with medications for effective treatment.
DID YOU KNOW?
Infants suffering from jaundice should also be checked for this disorder.