Congenital bile acid synthesis defect type 3 (CBAS3) 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 CBAS3 have a deficiency of the enzyme 7α-hydroxysteroid dehydrogenase, which is responsible for the conversion of cholesterol to bile acids. This leads to an accumulation of cholesterol in the liver and other tissues, resulting in a variety of symptoms including liver dysfunction, poor growth, and neurological problems. Treatment typically involves dietary modifications and supplementation with bile acids.

The symptoms of Congenital Bile Acid Synthesis Defect Type 3 (CBAS3) 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 3 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 or obesity
5. Maternal use of certain medications during pregnancy
6. Advanced maternal age

There is no cure for Congenital Bile Acid Synthesis Defect Type 3, but medications can be used to help manage the symptoms. These medications include Ursodeoxycholic acid (UDCA), which helps to reduce the amount of bile acids in the body, and fat-soluble vitamins, which help to improve the absorption of fat-soluble vitamins. Additionally, dietary changes may be recommended to reduce the amount of fat in the diet and to increase the amount of fiber.