Lipoprotein lipase deficiency
Lipoprotein Lipase Deficiency
Lipoprotein lipase deficiency (pronounced: li-po-pro-teen li-peys de-fi-shen-see) is a rare genetic disorder that affects the body's ability to break down fats. It is also known as LPL deficiency or Chylomicronemia syndrome.
Etymology
The term "lipoprotein lipase deficiency" is derived from the name of the enzyme that is deficient in this condition, the lipoprotein lipase. "Lipoprotein" refers to the type of molecules that this enzyme acts upon, and "lipase" is a general term for enzymes that break down fats.
Definition
Lipoprotein lipase deficiency is a condition characterized by the inability of the body to properly break down fats into smaller molecules. This is due to a deficiency in the enzyme lipoprotein lipase, which is responsible for the hydrolysis of triglycerides in lipoproteins.
Symptoms
The most common symptoms of lipoprotein lipase deficiency include pancreatitis, abdominal pain, and the presence of fatty deposits in the skin and other tissues. These symptoms are due to the accumulation of fats in the blood and tissues.
Causes
Lipoprotein lipase deficiency is caused by mutations in the LPL gene, which provides instructions for producing the lipoprotein lipase enzyme. This enzyme is necessary for the normal breakdown of fats in the body.
Treatment
Treatment for lipoprotein lipase deficiency typically involves a low-fat diet to help control the levels of fats in the blood. In some cases, medication or other treatments may be necessary.
Related Terms
- Hyperlipidemia: A condition characterized by high levels of fats in the blood.
- Lipase: An enzyme that breaks down fats.
- Lipoprotein: A type of molecule that carries fats in the blood.
- Triglyceride: A type of fat found in the blood.
External links
- Medical encyclopedia article on Lipoprotein lipase deficiency
- Wikipedia's article - Lipoprotein lipase deficiency
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