Lysosomal acid lipase deficiency

Lysosomal acid lipase (LAL) deficiency is autosomal recessive lysosomal storage disorders including Wolman disease and Cholesteryl ester storage disease (CESD). This disease is characterized by massive accumulation of cholesteryl ester and triglycerides. Wolman disease is the infantile form presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Without treatment, hepatic failure and death occur within the first year of life. In CESD, hepatomegaly may be the only clinical abnormality, although lipid deposition is widespread. Although hematopoietic cell transplantation (HCT) was the only therapy, in 2015 sebelipase alfa was approved in the US and EU for the treatment of LAL deficiency.