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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.
In the setting of critical illness, low cholesterol levels are predictive of clinical deterioration, and are correlated with altered cytokine levels. [2]In humans with genetic loss-of-function variants in one copy of the ANGPTL3 gene, the serum LDL-C levels are reduced.
Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from the digestive tract to the liver; Familial apoprotein CII deficiency (type Ib), [17] [18] a condition caused by a lack of lipoprotein lipase ...
In contrast, no evidence was found for a link with hemorrhagic stroke (although higher cholesterol levels conferred a relative protection), and neither did statin drugs worsen the risk. [ 4 ] The Heart Protection Study found no increase in either respiratory disease or neuropsychiatric illness in a large trial population taking a statin drug.
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.
Notably, in people who do not have the genetic disorder hypobetalipoproteinemia, a very low cholesterol level (less than 100 mg/dl) may be a marker for poor nutrition, wasting disease, cancer, hyperthyroidism, and liver disease. In 1997 a study showed that Japanese Centenarians had tenfold increase of hypobetalipoproteinemia compared with controls.
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.
Permanent link; Page information ... Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, ... Lecithin cholesterol acyltransferase deficiency (LCAT ...