What are lipidosis?
The general term lipidosis describes any of the more than 30 inherited metabolic disorders causing abnormal accumulation of fats, oils or steroids in tissues, resulting in the body's inability to break these substances correctly. Some patients show symptoms of lipid storage disorders shortly after birth, while other disorders may not cause symptoms until individuals reach maturity. Symptoms also vary depending on which part of the body is affected by the disorder.
Under normal circumstances, individuals at birth produce the respective enzymes needed for metabolization and use of various food substances. Persons born with metabolic disorders usually lack genetic coding responsible for creating a sufficient amount of enzymes metabolizing lipids or produced enzymes. Parents carrying a defective gene are generally without symptoms of disorder. Healthcare providers are considering relatively unusual lipidosis, but some of them inheritors appear more often.
varFor example, IACE Gauchar's disease is influenced by women or men in many parts of the world, and specialists consider the disorder to be one of the more common forms of lipidosis. Both parents must carry the gene before handing over the disease to the offspring. Symptoms occur when abnormal fat accumulates and pushes healthy cells in bones, liver, spleen and nervous system. Patients generally experience a wide range of symptoms that include abdominal swelling of liver and spleen, stunted growth or fractures from affected bone tissue and fatigue from anemia due to tendency easily bruising or bleeding. Treatment includes symptomatic relief and the replacement of the enzyme.
Research suggests that one in 250 people carries a gene for Tay-Sachs' disease, although the disorder prominently affects people of Jewish origin. Abnormal amounts of acid accumulate in the nervous system of children born with this form of lipidosis. Children affected Tay-Sachs will be blinded, loses fYzic coordination and have mental developmental obstacles. As the disease progresses, the disorder causes seizures, difficulty breathing and the inability to swallow, which eventually culminates in death. Treatment usually involves alleviating symptoms, even if research continues.
cerebrotendinous xanthomatosis is lipidosis characterized by abnormal accumulations of cholesterol in the body. The disorder is commonly manifested with chronic diarrhea during childhood; cataracts during childhood; and the presence of xanthomatosis or cholesterol deposits under the skin and various other places during young adulthood. Patients often experience delayed mental development accompanied by various psychiatric symptoms, along with muscle convulsions, tremors and seizure activity. Treatment includes symptomatic relief and enzyme supplementation that helps in cholesterol metabolization.