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Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. [2]
In humans with genetic loss-of-function variants in one copy of the ANGPTL3 gene, the serum LDL-C levels are reduced. 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]
High cholesterol is often silent, but this cardiologist looks for a common sign.
The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol. 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.
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
The idea that HDL cholesterol is good for you stems from a study conducted in the 1970s that determined high levels of HDL were linked with a low heart disease risk, explains Alfonso Waller, M.D ...
Esperion, divested by Pfizer in 2008, [12] is back in business and continue to work on HDL mimetic therapies. [13] The company established an agreement with TransGenRx as a protein source. [14] Calgary-based SemBioSys Genetics Inc. was a biotechnology company that was using Safflower to develop commercial quantities of ApoA-I Milano.