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CONGENITAL BILE ACID SYNTHESIS DEFECT
Congenital Bile Acid Synthesis Defect is a group of rare metabolic disorders that are characterized by defective synthesis of bile acids. Bile acids are the main pathway in breaking down cholesterol. Congenital Bile Acid Synthesis Defect involves congenital deficiencies in enzymes required for synthesizing two main bile acids. Symptoms are:
• Failure to gain weight at expected rate in infants
• Yellowing of skin and eyes
• Excess fat in stools
• Liver abnormalities
• Enlarged spleen
• Inability to absorb fat soluble vitamins
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
The diagnosis is usually done by a Gastroenterologist or a general physician who will first of all take samples of the blood, urine and stool in order to carry out lab tests. Further, a liver functioning test will also be carried out for effective diagnosis, especially as far as the severity is concerned.
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?
Infants suffering from jaundice should also be checked for this disorder.