In LAL deficiency (Wolman disease and CE storage disease), the reduced LAL activity can impair ATP-binding cassette transporter A1 expression in response to LDL loading, leading to reduced cholesterol efflux, an effect that is reversed on treatment with recombinant human LAL.50 Indeed, a Phase 3 trial of LAL replacement therapy has recently reported improvements in lipid profile in individuals with LAL deficiency.51 The gene discussed is ABCA1; the disease is lysosomal acid lipase deficiency.