Intractable Vitamin D Deficiency Rickets in twin siblings

Abstract

Background: Bile acid synthesis disorders (BASD) are a group of uncommon metabolic disorders caused by inborn genetic defects in the synthesis of bile acids. Bile acids are a chemical compound that are produced in the liver to promote the flow and excretion of bile in the liver, a key element in absorption of fats and fat-soluble vitamins, and also work in the elimination of cholesterol from the body. Defects in the bile acid synthesis process lead to a failure in creating normal bile acids, resulting in malabsorption of vital nutrients, …