Lipidosis is an umbrella term for over 30 inherited metabolic disorders that cause abnormal accumulations of fats, oils, or steroids in tissue due to the body’s inability to break them down. Symptoms and age of onset vary, and treatment involves symptomatic relief and enzyme replacement. Gaucher disease and Tay-Sachs disease are two common forms of lipidosis.
The umbrella term lipidosis describes any of more than 30 inherited metabolic disorders that cause abnormal accumulations of fats, oils, or steroids in tissue, resulting from the body’s inability to properly break these substances down. Some patients show symptoms of lipid storage disorders shortly after birth, while other disorders may not produce symptoms until individuals reach adulthood. Symptoms also vary depending on which part of the body is affected by the disorder.
Under normal circumstances, individuals at birth produce the appropriate enzymes needed to metabolize and utilize various food substances. People born with metabolic disorders typically lack the genetic code responsible for producing sufficient amounts of lipid-metabolizing enzymes or the malfunction of the enzymes produced. Parents who carry a defective gene are usually without symptoms of the disease. Healthcare professionals consider lipidosis relatively uncommon, but some of these hereditary disorders appear more frequently.
Variations of Gaucher disease, for example, affect women or men in many parts of the world, and specialists consider the disorder to be one of the most common forms of lipidosis. Both parents must carry the gene before passing the disease to their offspring. Symptoms occur when abnormal fat builds up and displaces healthy cells in the bones, liver, spleen, and nervous system. Patients generally experience a wide range of symptoms, which include abdominal swelling due to liver and spleen involvement, stunted growth or fractures from affected bone tissue, and anemia fatigue due to a tendency to bruise or bleed easily. Treatment includes symptomatic relief and enzyme replacement.
Research suggests that one in 250 people carry the Tay-Sachs disease gene, although the disorder most prominently affects people of Jewish descent. Abnormal amounts of fatty acids build up in the nervous system of children born with this form of lipidosis. Children with Tay-Sachs go blind, lose physical coordination, and have obstacles to mental development. As the disease progresses, the disorder causes seizures, difficulty breathing, and inability to swallow, eventually resulting in death. Treatment typically involves relieving symptoms, although research continues.
Cerebrotendinous xanthomatosis is a lipidosis characterized by abnormal accumulations of cholesterol throughout the body. The disorder commonly manifests as chronic diarrhea in infancy; cataract in childhood; and the presence of xanthomatosis, or cholesterol deposits, under the skin and in various other places during young adulthood. Patients often experience delayed mental development accompanied by various psychiatric symptoms, along with muscle spasms, tremors, and seizure activity. Treatment includes symptomatic relief and enzyme supplementation, which helps metabolize cholesterol.
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