Beyond Cholesterol and Triglycerides in the Lipid Clinic: The Challenging Task of Identifying Lysosomal Acid Lipase Deficiency

Lysosomal acid lipase deficiency (LAL-D) is a rare, autosomal recessive genetic disorder. Biallelic pathogenic variants within the LIPA gene result in a deficiency of the lysosomal acid lipase (LAL) enzyme, which is crucial for the hydrolysis of cholesteryl esters (CE) via the endocytic pathway. This enzymatic defect consequently leads to the lysosomal accumulation of CE and triglycerides. The phenotype of LAL-D varies significantly depending on the specific genetic variation. Specifically, null allelic variants, characterized by the absence of residual enzymatic [...]