Congenital bile acid synthesis defect type 2 (CBAS2) is a rare inherited disorder that affects the body's ability to produce bile acids, which are essential for digestion and absorption of fats and fat-soluble vitamins. People with CBAS2 have a deficiency of the enzyme 7α-hydroxylase, which is responsible for the final step in the synthesis of bile acids. This deficiency leads to an accumulation of bile acids in the body, which can cause a variety of symptoms, including liver disease, poor growth, and neurological problems. Treatment for CBAS2 typically involves dietary modifications and supplementation with bile acid precursors.

The symptoms of Congenital Bile Acid Synthesis Defect Type 2 (CBAS2) vary from person to person, but may include:

-Jaundice
-Poor growth
-Failure to thrive
-Liver dysfunction
-Chronic diarrhea
-Vomiting
-Malabsorption
-Dehydration
-Weight loss
-Ascites (fluid buildup in the abdomen)
-Gallstones
-Itchy skin
-Dark urine
-Light-colored stools
-Enlarged liver and spleen
-High levels of bile acids in the blood

Congenital bile acid synthesis defect type 2 is caused by mutations in the gene ABCB11, which encodes the bile salt export pump (BSEP). Mutations in this gene lead to a decrease in the activity of BSEP, resulting in an accumulation of bile acids in the liver and other tissues. This accumulation of bile acids can lead to a variety of symptoms, including liver damage, jaundice, and poor growth.

1. Dietary therapy: A low-fat diet is recommended to reduce the amount of bile acids produced by the body.

2. Cholestyramine: This medication binds to bile acids in the intestine, preventing them from being reabsorbed into the body.

3. Ursodeoxycholic acid (UDCA): This medication helps to reduce the amount of bile acids produced by the liver.

4. Liver transplant: In some cases, a liver transplant may be necessary to treat the condition.

5. Vitamin supplementation: Vitamin supplementation may be necessary to prevent deficiencies caused by the condition.

1. Family history of the disorder
2. Genetic mutations in the ABCB11 gene
3. Exposure to certain environmental toxins
4. Maternal diabetes
5. Maternal obesity
6. Maternal alcohol use
7. Maternal smoking
8. Maternal age over 35

Yes, there is a medication available to treat Congenital Bile Acid Synthesis Defect Type 2. The medication is called chenodeoxycholic acid (CDCA) and it is used to replace the bile acids that are not being produced by the body. CDCA is usually taken orally, but can also be given intravenously. It is important to note that CDCA is not a cure for Congenital Bile Acid Synthesis Defect Type 2, but it can help to manage the symptoms and improve the quality of life for those affected.