Clinical characteristics of children with lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency (LAL-D) is a rare hereditary disorder, caused by pathogenic variant in the LIPA gene. LAL-D is screened as a secondary disorder among other rare dyslipidemias exhibiting with hypercholesterolemia as part of the Slovenian universal familial hypercholesterolemia (FH) screening program. We present clinical and genetical data of 3 children with LAL-D, and data for prevalence estimation in Slovenia.