Learn about clinical trials currently looking for people with acid lipase disease at. This is usually the case because doctors and researchers do not see many people with acid lipase disease, which makes it hard to learn from them through observations or large studies.Ĭonsider participating in a clinical trial so clinicians and scientists can learn more about acid lipase disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.Īll types of volunteers are needed-those who are healthy or may have an illness or disease-of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.įor information about participating in clinical research visit NIH Clinical Research Trials and You. How can I or my loved one help improve care for people with acid lipase disease?Īcid lipase disease is considered a rare disease, which often means there is not much information known about it. People with CESD may benefit from a low cholesterol diet. Onset varies and individuals may live into adulthood. Children may also develop calcium deposits in the adrenal glands and jaundice. Children develop an enlarged liver, leading to cirrhosis and chronic liver failure before adulthood. Cholesteryl ester storage disease (CESD) is an extremely rare disorder caused by storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue.Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration and low muscle tone, as well as an enlarged liver, grossly enlarged spleen, calcium deposits in the adrenal glands, and gastrointestinal and other problems. Wolman's disease (also known as acid lipase deficiency) is marked by the buildup of cholesteryl esters (normally a transport form of cholesterol that brings nutrients into the cells and carries out waste) and triglycerides (a chemical form in which fats exist in the body).Two rare lipid storage diseases are caused by the deficiency of the enzyme lysosomal acid lipase, both of which affect males and females. Lipids include fatty acids, oils, and cholesterol. There is no cure for acid lipase disease. Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Over time, the buildup of these fats, called lipids, in the body's cells and tissues becomes toxic. It occurs when the enzyme needed to break down certain fatty materials that are normally digested by the body is lacking or missing. Acid lipase disease or deficiency is a rare inherited disorder that can cause permanent cellular and tissue damage, particularly in the brain and peripheral nervous system (the nerves form the spinal cord to the rest of the body) and in other organs.
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