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Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme lysosomal acid lipase that is needed to break down certain fats that are normally digested by the body is lacking or missing. This results in the toxic buildup of these fats in the body's cells ...
Before the drug was approved, treatment of infants was mainly focused on reducing specific complications and was provided in specialized centers. Specific interventions for infants included changing from breast or normal bottle formula to a specialized low-fat formula, intravenous feeding, antibiotics for infections, and steroid replacement ...
In those with loss-of-function variants in both copies of ANGPTL3, low LDL-C, low HDL-C, and low triglycerides are seen ("familial combined hypolipidemia"). [3] Hooft disease is a rare condition evidenced by low blood lipid level, red rash and mental and physical retardation. [citation needed]
Lipase inhibitors belong to a drug class that is used as an antiobesity agent. Their mode of action is to inhibit gastric and pancreatic lipases, enzymes that play an important role in the digestion of dietary fat. [2] Lipase inhibitors are classified in the ATC-classification system as A08AB (peripherally acting antiobesity products). [3]
The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate ( failure to thrive ); diarrhea; abnormal spiny red blood cells ( acanthocytosis ); and fatty, foul-smelling stools ( steatorrhea ...
Lipid storage diseases can be inherited two ways: Autosomal recessive inheritance occurs when both parents carry and pass on a copy of the faulty gene, but neither parent show signs and symptoms of the condition and is not affected by the disorder. Each child born to these parents have a 25 percent chance of inheriting both copies of the ...
Lipoprotein lipase deficiency leads to hypertriglyceridemia (elevated levels of triglycerides in the bloodstream). [35] In mice, overexpression of LPL has been shown to cause insulin resistance, [36] [37] and to promote obesity. [30] A high adipose tissue LPL response to a high-carbohydrate diet may predispose toward fat gain.