Lysosomal Acid Lipase Activity, Blood

Use

Lysosomal acid lipase deficiency (LAL-D) is a lipid storage disorder characterized by two clinically distinct phenotypes: Wolman disease and cholesteryl ester storage disease. It follows an autosomal recessive inheritance pattern due to mutations in the LIPA gene. Measurement of lysosomal acid lipase enzyme activity in blood aids in diagnosing LAL‑D and distinguishing it from other lipid metabolism disorders and liver disease etiologies.