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Cholesteryl ester storage disease
rareA form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
- Identifiers
- MONDO:0019149 OMIM:278000Orphanet:75234
- Causal genes
- LIPA
- Part of
- Lysosomal acid lipase deficiency
- Also known as
- CESD · cholesterol ester hydrolase deficiency, partial · cholesterol ester storage disease · LAL deficiency, partial · LIPA deficiency, partial
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