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
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
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
The company's lead candidate SBC-102 is being developed as an enzyme replacement therapy for Lysosomal Acid Lipase