Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.
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C.E.M.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received educational and research grants from Genzyme and Shire, and that she is an advisor for the Dutch Medicines Evaluation Board (CBG–MEB). G.K.H. declares that the Academic Medical Center (AMC), Amsterdam, Netherlands, has received grant support for clinical trials and consulting fees and/or honoraria from Amgen, Pfizer, Sanofi and Synageva.
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Hollak, C., Hovingh, G. Lysosomal acid lipase deficiency—a cautious leap forward. Nat Rev Endocrinol 11, 696–697 (2015). https://doi.org/10.1038/nrendo.2015.182
Jornal de Pediatria (Versão em Português) (2019)
Jornal de Pediatria (2019)