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Familial LPL deficiency should be considered in anyone with severe hypertriglyceridemia and the chylomicronemia syndrome. The absence of secondary causes of severe hypertriglyceridemia (like e.g. diabetes, alcohol, estrogen -, glucocorticoid -, antidepressant - or isotretinoin -therapy, certain antihypertensive agents , and paraproteinemic ...
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 ...
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 ...
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]
Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). As a result, an affected individual will have an excessive number of VLDL and triglycerides on a lipid profile.
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 ...
LPL catalyzes the hydrolysis of triglycerides that ultimately releases glycerol and fatty acids from the chylomicrons. Glycerol and fatty acids can then be absorbed in peripheral tissues, especially adipose and muscle , for energy and storage.
LPL: lipoprotein lipase: LPP: lichen planopilaris: LQTS: long QT syndrome: L/S: lecithin-to-sphingomyelin ratio LS: lichen sclerosus Lynch syndrome: LSA: lichen sclerosis et atrophicus: LSB: left sternal border LSCS: Lower segment Caesarean section: LSCTA: lung sounds clear to auscultation: LSIL: low-grade squamous intraepithelial lesion: LST ...