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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.
16956 Ensembl ENSG00000175445 ENSMUSG00000015568 UniProt P06858 P11152 RefSeq (mRNA) NM_000237 NM_008509 RefSeq (protein) NP_000228 NP_032535 Location (UCSC) Chr 8: 19.9 – 19.97 Mb Chr 8: 69.33 – 69.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Lipoprotein lipase Identifiers EC no. 3.1.1.34 CAS no. 9004-02-8 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme ...
LPL or "LIPD" endothelium: Lipoprotein lipase functions in the blood to act on triacylglycerides carried on VLDL (very low density lipoprotein) so that cells can take up the freed fatty acids. Lipoprotein lipase deficiency is caused by mutations in the gene encoding lipoprotein lipase. [20] [21] hormone-sensitive lipase: LIPE: intracellular ...
The UpToDate system is an evidence-based clinical resource. It includes a collection of medical and patient information, access to Lexicomp drug monographs and drug-to-drug interactions, and a number of medical calculators. UpToDate is written by over 7,100 physician authors, editors, and peer reviewers. It is available both via the Internet ...
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
Alipogene tiparvovec, sold under the brand name Glybera, is a gene therapy treatment designed to reverse lipoprotein lipase deficiency (LPLD), a rare recessive disorder, due to mutations in LPL, which can cause severe pancreatitis. [1]
Acute fatty liver of pregnancy is a rare life-threatening complication of pregnancy that occurs in the third trimester or the immediate period after delivery. [1] It is thought to be caused by a disordered metabolism of fatty acids by mitochondria in the fetus, caused by long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. [2]
The rabbit test became a widely used bioassay (animal-based test) to test for pregnancy. The term "rabbit test" was first recorded in 1949, and was the origin of a common euphemism, "the rabbit died", for a positive pregnancy test. [4] The phrase was, in fact, based on a common misconception about the test.