Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

Korbelius, M; Kuentzel, KB; Bradić, I; Vujić, N; Kratky, D.
Recent insights into lysosomal acid lipase deficiency.
Trends Mol Med. 2023; 29(6):425-438 Doi: 10.1016/j.molmed.2023.03.001 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

 

Leading authors Med Uni Graz

Korbelius Melanie

Kratky Dagmar

Co-authors Med Uni Graz

Bradic Ivan

Küntzel Katharina Barbara

Vujic Nemanja

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Abstract:

Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. Mutations in the LAL-encoding LIPA gene lead to rare lysosomal lipid storage disorders with complete or partial absence of LAL activity. This review discusses the consequences of defective LAL-mediated lipid hydrolysis on cellular lipid homeostasis, epidemiology, and clinical presentation. Early detection of LAL deficiency (LAL-D) is essential for disease management and survival. LAL-D must be considered in patients with dyslipidemia and elevated aminotransferase concentrations of unknown etiology. Enzyme replacement therapy, sometimes in combination with hematopoietic stem cell transplantation (HSCT), is currently the only therapy for LAL-D. New technologies based on mRNA and viral vector gene transfer are recent efforts to provide other effective therapeutic strategies.

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