lipoprotein lipase deficiency

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lipoprotein lipase deficiency

An AR condition characterized by lack of lipoprotein lipase, resulting in massive hypertriglyceridemia of neonatal onset and recurrent episodes of pancreatitis Clinical Fatty food intolerance, eruptive xanthomas, hepatosplenomegaly that regresses with dietary control


any of the macromolecular complexes that are the form in which lipids are transported in the blood. They consist of a core of hydrophobic lipids covered by a layer of phospholipids and apoproteins, which make the complex water-soluble. There are four main classes of lipoproteins: chylomicrons, in which lipids are transported after a meal from the intestine to tissues, where they are stored or used; very low density lipoproteins (VLDL); low density lipoproteins (LDL); and high density lipoproteins (HDL). VLDL and HDL are produced by both the liver and the intestine; LDL is produced by the metabolism of VLDL.

high density lipoproteins which migrate in the alpha position in paper chromatography. Inherited deficiency of these proteins is described in humans but there is no known animal model of the disease.
lipoprotein factor Xa inhibitor
a blood coagulation inhibitor present in the low density lipoprotein fraction of plasma.
high density lipoprotein (HDL)
a fraction of lipoproteins separable by ultracentrifugation.
intermediate density lipoprotein (IDL)
intermediate in density between LDL and VLDL; migrate in electrophoresis with β-globulins.
lipoprotein lipase
specific lipase hydrolyzing lipoproteins.
lipoprotein lipase deficiency
References in periodicals archive ?
Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome.
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
Hemolysis in primary lipoprotein lipase deficiency.
Indeed, the rare autosomal recessive deficiency of apo C2 can lead to a decrease in lipoprotein lipase deficiency as profound as that in familial lipoprotein lipase deficiency (34, 35).
30 January 2012 - Dutch Amsterdam Molecular Therapeutics (AMS:AMT), or AMT, said on Friday the European Commission's (EC) Standing Committee of the European Parliament had not taken a firm "yes" or "no" stance as regards granting marketing authorisation for Glybera (alipogene tiparvovec), a gene therapy developed by the company for patients with the genetic disorder lipoprotein lipase deficiency.
Glybera is a gene therapy for patients with the genetic disorder lipoprotein lipase deficiency (LPLD).
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
Glybera has been developed as a treatment for patients with the genetic disorder lipoprotein lipase deficiency.
AMT has developed Glybera as a treatment for patients with the genetic disorder lipoprotein lipase deficiency (LPLD), an orphan disease for which no treatment exists currently.
Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities.

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