Lysosomal acid lipase deficiency

Abstract

Lysosomal acid lipase deficiency (LAL-D) is a genetically determined progressive disease with significant morbidity and mortality in children and adults. The main clinical features include a combination of hepatic dysfunction and dyslipidemia as a consequence of cholesterol ester and triglyceride accumulation throughout the body, predominantly in the liver, spleen, gastrointestinal tract and vessel walls. It has an accurate diagnosis available by biochemical demonstration of acid lysosomal lipase (LAL) activity and in recent years has been well addressed by causal therapy based on recombinant enzyme replacement therapy.