Conditions / Genetic

lysosomal acid lipase deficiency

info ยท Genetic

A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31.

Also known as: LAL deficiency; LAL-D