A new method for the measurement of
lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2.
(1.) Htmes RW, Barlow SE, Bove K, Qutntantlh NM, Sheridan R, Kohh R
Lysosomal Acid Lipase Deficiency Unmasked in Two Children with Nonalcoholic Fatty Liver Disease Pediatrics 2016, 138.
Ala, "Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of
lysosomal acid lipase deficiency," The Lancet Gastroenterology and Hepatology, vol.
Sebelipase (Kanuma) is a lysosomal cholesteryl ester and triacylglycerol-specific enzyme that is indicated for the treatment of
lysosomal acid lipase deficiency.
Alexion's metabolic franchise includes two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare disorders including Kanuma[TM] (sebelipase alfa) for patients with
lysosomal acid lipase deficiency (LAL deficiency).
A fluorometric assay for
lysosomal acid lipase using DBS has been developed based on a 4MU fatty acid substrate and a covalent inactivator of the
lysosomal acid lipase, which enables the activity of this enzyme to be teased out of the total lipase activity from a collection of enzymes in blood (75).
Its lead programme, SBC-102, is a recombinant human
lysosomal acid lipase currently under clinical investigation for the treatment of patients with early onset and late onset
Lysosomal Acid Lipase (LAL) Deficiency.
(NASDAQ: ALXN) show that 80% of infants (8 out of 10) with rapidly progressive
lysosomal acid lipase deficiency (LAL-D) treated with Kanuma (sebelipase alfa) survived beyond 1 year of age, the company said.
For instance, Kanuma, which is used for the genetic condition
lysosomal acid lipase deficiency, costs as much as GBP492,000 per patient annually in the UK.
The merger, pending shareholder and regulatory nods, will enable Synageva to proceed with the development of its SBC-102 clinical programme, an enzyme replacement therapy for
lysosomal acid lipase (LAL) deficiency.
The differential diagnosis of nontraumatic splenomegaly with hypertriglyceridemia includes: hereditary absence of lipoprotein lipase or apoC-11, rare apoE3 mutations, deficiency of
lysosomal acid lipase, or hemophagocytic lymphohistiocytosis (1-3).