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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.
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]
Inactivity of lipoprotein lipase (LPL) plays the predominant role in the development of familial hypertriglyceridemia. LPL plays a role in the metabolism of triglycerides within VLDL molecules. Inactivation mutations in LPL will create an environment with an increased concentration of VLDL molecules and therefore, triglycerides.
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 ...
Lipoprotein lipase (LPL) (EC 3.1.1.34, systematic name triacylglycerol acylhydrolase (lipoprotein-dependent)) is a member of the lipase gene family, which includes pancreatic lipase, hepatic lipase, and endothelial lipase.
Lipoprotein lipase deficiency - Deficiency of this water-soluble enzyme, that hydrolyzes triglycerides in lipoproteins, leads to elevated levels of triglycerides in the blood. Lysosomal acid lipase deficiency or Cholesteryl ester storage disease; Certain medications e.g. isotretinoin, hydrochlorothiazide diuretics, beta blockers, protease ...
344 11813 Ensembl ENSG00000234906 ENSMUSG00000002992 UniProt P02655 Q05020 RefSeq (mRNA) NM_000483 NM_001277944 NM_001309795 RefSeq (protein) NP_000474 NP_000474.2 NP_001296728 NP_001264873 NP_001296724 Location (UCSC) Chr 19: 44.95 – 44.95 Mb Chr 7: 19.41 – 19.41 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein family Apo-CII nmr structure of human apolipoprotein c-ii in ...
This condition is more likely when a mutation in apolipoprotein E (ApoE) is present. ApoE serves as a ligand for the liver receptor for chylomicrons, IDL and VLDL, also known as very-low-density-lipoprotein receptor.