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The diagnosis of familial lipoprotein lipase deficiency is finally confirmed by detection of either homozygous or compound heterozygous pathogenic gene variants in LPL with either low or absent lipoprotein lipase enzyme activity. [citation needed] Lipid measurements · Milky, lipemic plasma revealing severe hyperchylomicronemia; [citation needed]
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
It can be diagnosed via blood study that identifies fat particles. The patient must fast overnight to prevent interference from fat in the blood due to food intake. The criteria for this (without the involvement of cholesterol-lowering drugs) are total cholesterol levels below 120 mg/dL and LDL cholesterol levels under 50 mg/dL. [1]
Lipoprotein lipase has been shown to interact with LRP1. [ 51 ] [ 52 ] [ 53 ] It is also a ligand for α2M , GP330 , and VLDL receptors. [ 23 ] LPL has been shown to be a ligand for LRP2 , albeit at a lower affinity than for other receptors; however, most of the LPL-dependent VLDL degradation can be attributed to the LRP2 pathway. [ 23 ]
Diagnosis of the lipid storage disorders can be achieved through the use of several tests. These tests include clinical examination, biopsy, genetic testing, molecular analysis of cells or tissues, and enzyme assays. Certain forms of this disease also can be diagnosed through urine testing, which detects the stored material.
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, [1] below the 5th percentile. [2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.
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]