Congenital Bile Acid Synthesis Defect is a kind of acute bile acid synthesis disorder where bile acids are not secreted properly. Lack of the correct production of these bile acids could lead to a range of neurological disorders. This usually happens in new born babies and is characterized by the suppression of fluids from this area and has 2 types.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
Gastroenterologists may order the following diagnosis tests:
• Specific serologic tests
• Liver biopsy
• Laboratory analysis of bile, blood, and urine
• Molecular genetic testing
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT TREATED?
The treatment will include administration of Cholbam or Cholic acid to infants and children. The aim is basically to replace the bile that is not being produced in appropriate quantities, with the help of medication and therapy to normalise the liver function.
DID YOU KNOW?
Bile acid synthesis disorders are caused by mutations in specific genes. Genes provide instructions for creating proteins that play a critical role in many functions of the body. If left untreated it may lead to cirrhosis and death in childhood.