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Lipids, or fats, are an important source of energy in the human body. Lipids in the body are constantly broken down, metabolized and used for energy production and replenished from food. The Merck Manuals Online Medical Library underlines that specific types and amounts of enzymes are required for the body to be able to balance storage and breakdown of fats. Imbalances or abnormal production of these enzymes can lead to an accumulation of fats that can damage many organs in the body. Other lipid-related diseases include the inability to convert stored fats to energy. The lipid diseases are inherited and can cause permanent damage and even death.
If you are experiencing serious medical symptoms, seek emergency treatment immediately.
Gaucher's disease is the most common type of lipid storage disease. It is by caused by a deficiency of an enzyme called glucocerebrosidase. In this inherited disease fat collects in the brain, lungs, liver, spleen, kidneys and bone marrow. This causes the organs to enlarge, swell and malfunction as well as bone disorders and painful lesions. The National Institute of Neurological Disorders and Stroke mentions that there are several types of Gaucher’s disease and males and females are affected equally. The disease is most common in Ashkenazi (Eastern European) Jews. Children with an infantile form of this disease have an enlarged spleen, severe nervous disorders and usually die within a year. The chronic form of Gaucher’s disease is the most common and is most commonly diagnosed in childhood.
- Gaucher's disease is the most common type of lipid storage disease.
- The chronic form of Gaucher’s disease is the most common and is most commonly diagnosed in childhood.
Diseases Caused by Lack of Enzymes
Tay-Sachs disease is a lipid disorder that is inherited. It causes a buildup of fats in the tissues that is usually fatal early in life. The disease is most common among family members of Eastern European origin. Effects of this lipid disease appear early, causing intellectual disability and loose muscle tone in children that progressively worsens. Other signs and symptoms include muscle spasms, paralysis, dementia and blindness. There is presently no cure or treatment and in most cases children with Tay-Sachs do not live past the age of five years. Prevention of Tay-Sachs includes genetic counseling, during which parents can find if they are carring the gene for this disease before conception and by amniocentesis during pregnancy.
- Tay-Sachs disease is a lipid disorder that is inherited.
- Prevention of Tay-Sachs includes genetic counseling, during which parents can find if they are carring the gene for this disease before conception and by amniocentesis during pregnancy.
Lipid Oxidation Disorder
Lipid or fatty acid oxidation disorders are caused by a deficiency or lack of the enzymes needed to break down fats to produce energy 1. This decreases energy in the body and leads to delayed physical and mental development, according to the National Institute of Neurological Disorders and Stroke.
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- Merck.com: Disorders of Lipid Metabolism
- Campbell, T. and Choy, R. " Gaucher disease and the synucleinopathies: refining the relationship." Orphanet J Rare Dis. 2012: 7:12. DOI: 10.1186/1750-1172-7-12.
- Nagral, A. "Gaucher Disease." J Clin Exp Hepatol. 2014; 4(1):37 -50. DOI: 10.1016/j.jceh.2014.02.005.
- National Gaucher Foundation. "What Is Gaucher Disease?" Rockville, Maryland.
- National Institutes of Health. "Gaucher disease." Genet Home Ref. Bethesda, Maryland; updated January 30, 2018.
Noreen Kassem is a hospital doctor and a medical writer. Her articles have been featured in "Women's Health," "Nutrition News," "Check Up" and "Alive Magazine." Kassem also covers travel, books, fitness, nutrition, cooking and green living.