A novel approach for the treatment of lysosomal acid lipase deficiency nonresponsive to conventional therapy regimen

Lysosomal acid lipase deficiency (LAL-D), or cholesterol ester storage disease, is a rare inherited lipid metabolism disorder affecting the breakdown of esters and triglycerides within lysosomes. The case 9 year old patient with growth retardation hepatosplenomegaly had confirmed diagnosis LAL-D. initial response to recommended Sebelipase alfa enzyme replacement therapy in biweekly infusion regimen was suboptimal; elevated levels transaminase elevations continued. After dose escalation by increasing per from 2.2mg/kg 2.5mg/kg change weekly resulted significant improvement total cholesterol, triglycerides, low density lipoprotein transaminases. To our knowledge this first report US on frequency increase age, which improved short term outcome.