Congenital bile acid synthesis defect type 1 (CBAS1) is a rare inherited disorder that affects the body's ability to produce bile acids. Bile acids are important for digestion and absorption of fats and fat-soluble vitamins. People with CBAS1 have a deficiency of the enzyme 7α-hydroxylase, which is responsible for the production 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 CBAS1 typically involves dietary changes and supplementation with bile acids.

The symptoms of Congenital Bile Acid Synthesis Defect Type 1 (CBAS1) 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 1 is caused by mutations in the gene responsible for the production of the enzyme 7α-hydroxylase, which is responsible for the production of bile acids. Mutations in this gene can lead to a decrease in the production of bile acids, resulting in a buildup of toxic bile acids in the body. This can lead to a variety of symptoms, including liver damage, poor growth, and neurological problems.

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. Maternal diabetes
4. Maternal obesity
5. Maternal use of certain medications during pregnancy
6. Maternal alcohol use during pregnancy
7. Maternal smoking during pregnancy
8. Advanced maternal age

Yes, there is a cure for Congenital Bile Acid Synthesis Defect Type 1. The primary treatment for this condition is a medication called chenodeoxycholic acid (CDCA). This medication helps to replace the bile acids that are not being produced by the body. Additionally, dietary changes may be recommended to help reduce the symptoms of this condition.