What are the disease condition of sphingolipid storage disease?
Sphingolipid storage diseases are caused by defective catabolic activities in the endolysosomal system of the cells. Lysosomal accumulation occurs predominantly in cells and organs that have the highest rates of biosynthesis or uptake of the undegradeable sphingolipids and their precursors.
What is the cause of lipid storage disease?
Lipid storage diseases are inherited from one or both parents who carry a defective gene that regulates a particular lipid-metabolizing enzyme in a class of the body’s cells.
What disease is associated with metabolic disorders of sphingolipids?
Moreover, studies in cultured cells and isolated tissues implicate sphingolipids in certain cellular events associated with diabetes and cardiovascular disease, including insulin resistance, pancreatic β-cell failure, cardiomyopathy, and vascular dysfunction.
What is K Sachs?
Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells.
How is lipid storage disorder diagnosed?
Diagnosis of the lipid storage disorders can be achieved through the use of several tests. These tests include clinical examination, biopsy, genetic testing, molecular analysis of cells or tissues, and enzyme assays.
What is Fabry disease symptoms?
Fabry disease symptoms include:
- Numbness, tingling, burning or pain in the hands or feet.
- Extreme pain during physical activity.
- Heat or cold intolerance.
- Abnormal opacity of the eye (cornea), which does not change someone’s vision.
- Dizziness.
- Flu-like symptoms, including fatigue, fever and body aches.
What happens when Tay-Sachs disease occurs in the body?
These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death.
What happens to lysosomes in Tay-Sachs disease?
Tay-Sachs disease is categorized as a lysosomal storage disease. Lysosomes are the major digestive units in cells. Enzymes within lysosomes break down or “digest” nutrients, including certain complex carbohydrates and fats (like glycosphingolipids).
In what disease is a decrease in sphingomyelin observed?
Sphingolipids in ischemic heart disease [31] observed a significant 50 % decrease in levels of sphingomyelin associated with significantly increased concentrations of ceramide during in vitro reperfusion of cardiomyocytes.
What is Tay-Sachs disease?
Tay-Sachs Disease – GM2 Gangliosidosis Type I, Type III, Chronic, And B1 Variant. TSD was described by Warren Tay in 1881 and by Bernard Sachs in 1887. The disease and its variants are caused by an absence or deficiency in the alpha subunit of Hex A. The severity of the disease inversely correlates with the level of Hex A activity.
What are the chances of Tay-Sachs disease during pregnancy?
In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.
What is targettay-Sachs disease?
Tay-Sachs disease is an inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM 2 gangliosidoses.
What is a Tay-Sachs carrier child?
A child who inherits one inactive gene is a Tay-Sachs carrier like the parent. If both parents are carriers and their child inherits the defective Hex-A gene from each of them, the child will have Tay-Sachs disease.