LIPA

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LIPA

A gene on chromosome 10q23.2 that encodes lipase A, the lysosomal acid lipase (i.e., cholesterol ester hydrolase) that catalyses the hydrolysis of cholesteryl esters and triglycerides in lysosomes.

Molecular pathology
LIPA mutations are linked to CESD and Wolman disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.
(5.) Burton BK, Balwani M, Feillet F, et al A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency N Engl J Med 2015, 373 1010-20.
Galloway, "A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2," Clinica Chimica Acta, vol.
A new method for measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.
Kanuma (sebelipase alfa) is an enzyme replacement therapy that addresses the underlying cause of lysosomal acid lipase deficiency (LAL-D) by replacing the missing vital enzyme and reducing lipid substrate accumulation in the lysosomes of cells throughout the body.
* In addition to heterozygous E3[DELTA]149Leu, the differential diagnosis of nontraumatic splenomegaly with hypertriglyceridemia includes: deficiency of lipoprotein lipase or its cofactor apoC-II, deficiency of lysosomal acid lipase, or hemophagocytic lymphohistiocytosis (1-3).
In addition, Alexion has two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare metabolic disorders, hypophosphatasia and lysosomal acid lipase deficiency (LAL-D).
The drug, which would have been used to treat infants, children and adults suffering from lysosomal acid lipase deficiency (LAL-D), was rejected due to its high price and uncertainty surrounding its long term benefits.
In addition, the company's metabolic franchise includes two enzyme replacement therapies for patients with life-threatening and ultra-rare disorders, hypophosphatasia and lysosomal acid lipase deficiency (LAL-D).
LAL Deficiency (Lysosomal Acid Lipase Deficiency) is reportedly a rare, autosomal recessive lysosomal storage disorder (LSD) that is caused by a marked decrease in lysosomal acid lipase activity.
The company's lead candidate SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase (LAL) Deficiency.

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