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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 ]
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.
lipoprotein lipase: 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 ...
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
This may also be called standard range. In contrast, optimal (health) range or therapeutic target is a reference range or limit that is based on concentrations or levels that are associated with optimal health or minimal risk of related complications and diseases. For most substances presented, the optimal levels are the ones normally found in ...
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 ]
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.
Human body weight is a person's mass or weight. Strictly speaking, body weight is the measurement of mass without items located on the person. Practically though, body weight may be measured with clothes on, but without shoes or heavy accessories such as mobile phones and wallets, and using manual or digital weighing scales .