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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.
Chylomicron retention disease is a disorder of fat absorption. [1] It is associated with SAR1B . [ 2 ] Mutations in SAR1B prevent the release of chylomicrons in the circulation which leads to nutritional and developmental problems. [ 3 ]
Chylomicron structure ApoA, ApoB, ApoC, ApoE (apolipoproteins); T (triacylglycerol); C (cholesterol); green (phospholipids). Chylomicrons transport lipids absorbed from the intestine to adipose, cardiac, and skeletal muscle tissue, where their triglyceride components are hydrolyzed by the activity of the lipoprotein lipase, allowing the released free fatty acids to be absorbed by the tissues.
Lipaemia retinalis (LR) also spelled as Lipemia retinalis is an eye disease caused by high amounts of triglycerides in the blood (hypertriglyceridemia) or Lipoprotein lipase deficiency (chylomicronemia). In this condition the retinal arteries and veins, and occasionally the entire fundus shows creamy-white to salmon red discoloration.
Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts. [citation needed]
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 ...
In the liver, chylomicron particles release triglycerides and some cholesterol. The liver converts unburned food metabolites into very low density lipoproteins (VLDL) and secretes them into plasma where they are converted to intermediate-density lipoproteins(IDL), which thereafter are converted to low-density lipoprotein (LDL) particles and non ...
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.