lysosomal acid lipase deficiency

Definition: Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, is coded for by a gene (LIPA) on chromosome 10.

Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the LIPA gene.

Images

 A 15 y.o. girl with Lysosomal Acid Lipase Deficiency. Liver. HE MT CD68

• https://twitter.com/francesc_riu/status/847500260545048576

Variants

 Wolman disease
 cholesteryl ester storage disease (CESD)

See also

 metabolic diseases

• lysosomal storage diseases