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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.
Lipoprotein lipase deficiency leads to hypertriglyceridemia (elevated levels of triglycerides in the bloodstream). [35] In mice, overexpression of LPL has been shown to cause insulin resistance , [ 36 ] [ 37 ] and to promote obesity.
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 ...
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 ...
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.
1 Signs and symptoms. 2 Causes. 3 Diagnosis. 4 Treatment. ... also known as very-low-density-lipoprotein receptor. Individuals with two copies of the ApoE2 gene have ...
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
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.