The clinical spectrum of lysosomal acid lipase deficiency (LALD) ranges from the severe early-onset (infantile) form, known as Wolman disease (WD—OMIM#620151), characterized by ≤1% of lysosomal acid lipase (LAL) activity, to the late-onset form (childhood/adult-onset), referred to as cholesteryl ester storage disease (CESD—OMIM#278000), in which patients retain up to 10% enzymatic activity. Here, LIPA is linked to lysosomal acid lipase deficiency.