Lysosomal acid lipase deficiency screen

Lysosomal Acid Lipase (LAL) Deficiency is an autosomal recessive Lysosomal Storage Disorder (LSD) that is caused by a deficiency of LAL, the enzyme that breaks down cholesteryl esters and triglycerides in the lysosomes. The clinical manifestations of LAL Deficiency span all ages with a wide spectrum of severity which is thought to relate to a patient’s residual LAL levels. The more common milder form of the disease is known as cholesterol ester storage disease (CESD). The less common severe form is more commonly known as Wolman Disease.