children s health issues
Cholesteryl Ester Storage Disease and Wolman Disease
Introduction
Cholesteryl ester storage disease and Wolman disease are hereditary metabolic disorders called lipid storage diseases (lipidoses) that are caused by a buildup of types of cholesterol and triglycerides in the tissues. These diseases cause high levels of fats in the blood and an enlarged liver. Hereditary diseases occur when parents pass the defective Genes that cause these diseases on to their children. There are different types of Inheritance of Single-Gene Disorders . In many hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene. Because usually two copies of the abnormal gene are necessary for the disorder to occur, usually neither parent has the disorder. Some hereditary metabolic disorders are occur when the body lacks one of the enzymes that help the body break down (metabolize) and process Fats (lipids). This can lead to the buildup of specific fatty substances that normally would have been broken down by the enzymes. Over time, accumulations of these substances can be harmful to many organs of the body. In cholesteryl ester storage disease and Wolman disease, cholesterol and triglycerides, which are important fats in the blood, accumulate in tissues. The enzyme needed to break down cholesterol and triglycerides, called lysosomal acid lipase, does not work correctly. 