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In acid lipase disease the lysosomal acid lipase enzyme is either lacking or missing. In both CESD and Wolman's disease there is a mutation with in the LIPA gene , which maps to chromosome 10q23.2, has 10 exons and is approximately 45 kb in length, [ 5 ] that encodes for the lysosomal acid lipase enzyme. [ 1 ]
The classic presentation is vomiting and failure to gain weight in a newborn with chalky bilateral adrenal calcifications on imaging, with life expectancy rarely exceeding a year. [2] Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life.
In biochemistry, lipase (/ ˈ l aɪ p eɪ s, ˈ l aɪ p eɪ z / LY-payss, LY-payz) refers to a class of enzymes that catalyzes the hydrolysis of fats. Some lipases display broad substrate scope including esters of cholesterol , phospholipids , and of lipid-soluble vitamins [ 1 ] [ 2 ] and sphingomyelinases ; [ 3 ] however, these are usually ...
Pancreatic lipase, also known as pancreatic triacylglycerol lipase or steapsin, is an enzyme secreted from the pancreas.As the primary lipase enzyme that hydrolyzes (breaks down) dietary fat molecules in the human digestive system, it is one of the main digestive enzymes, converting triglyceride substrates like 1 found in ingested oils to monoglycerides 3 and free fatty acids 2a and 2b.
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.
If the lipase level is about 2.5 to 3 times that of amylase, it is an indication of pancreatitis due to alcohol. [14] Serum lipase is more sensitive and specific than serum amylase in the diagnosis of acute pancreatitis, and is the preferred test in the diagnosis. [15] [16]
Hepatic lipase (HL), also called hepatic triglyceride lipase (HTGL) or LIPC (for "lipase, hepatic"), is a form of lipase, catalyzing the hydrolysis of triacylglyceride. Hepatic lipase is coded by chromosome 15 and its gene is also often referred to as HTGL or LIPC . [ 5 ]
At the intracellular level, the byproducts released by the lysosomal lipase are recycled for membrane assembly and energy production. [4] In addition, these enzymes participate in the production of specific fatty acids necessary for the metabolic reprogramming of CD8+ memory T cells, macrophage alternative activation, and lipid mediator ...