Lijecnicki vjesnik 2020;142(11-12)
Lysosomal Acid Lipase Deficiency: rare genetic disease disguised as nonalcoholic fatty liver disease with dyslipidemia
Nediljko Šućur, Ivan Pećin, Lucija Ermacora, Diana Muačević-Katanec, Ana Godan Hauptman, Dražen Perica, Dunja Leskovar, Ksenija Fumić, Željko Reiner
Abstract
Lysosomal acid lipase deficiency is an autosomal recessive disease that belongs to the group of lysosomal storage diseases and is the result of a mutation in the LIPA gene. It is a rare metabolic disease with an incidence estimated at 1:175,000 in the general population. Lysosomal acid lipase is an enzyme that breaks down cholesterol esters and triglycerides in lysosomes into free cholesterol and free fatty acids, and its deficient function leads to the progressive accumulation of cholesterol esters and triglycerides in the liver, spleen and other organs, which results in dysfunction of the affected cells and organs.