Lysosomal acid lipase (LAL) deficiency, also known as cholesterol ester storage disease, is a lysosomal acid lipase (LAL) deficiency that affects the breakdown of cholesterol esters and triglycerides. Hepatomegaly, hepatic dysfunction, and dyslipidemia are common clinical findings, with a wide range of phenotypic diversity and age of onset. The patient’s clinical and molecular evidence was compatible with a diagnosis of LAL deficiency, although her LAL activity assay consistently returned normal or borderline low findings. Her reaction to enzyme replacement treatment and the presence of a deficit on a more specific enzymatic assay validated her diagnosis of LAL deficiency.

Reference: https://journals.lww.com/jpgn/Abstract/2020/12000/A_Case_of_Lysosomal_Acid_Lipase_Deficiency.8.aspx