lysosomal acid lipase deficiency
MIM.278000 10q24-q25
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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.
Variants
Wolman disease
cholesteryl ester storage disease (CESD)
See also
metabolic diseases