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lysosomal acid lipase deficiency

MIM.278000 10q24-q25

Friday 2 December 2005

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.


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


- Wolman disease
- cholesteryl ester storage disease (CESD)

See also

- metabolic diseases