Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.
Amanda Barone PritchardAlanna StrongCan FiciciogluPublished in: Orphanet journal of rare diseases (2020)
Enzyme replacement therapy does not universally resolve all complications of LALD. Persistent dyslipidemia remains a clinically significant issue, likely related to the complex metabolic pathways implicated in LALD pathogenesis. We discuss the possible mechanistic basis for this unexpected finding and the implications for curative LALD therapy.