Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)
Autosomal recessive
Build-up of cholesteryl esters and triglycerides causes enlarged liver, fatty liver and fibrosis, high LDL cholesterol and early atherosclerosis; the infantile form also causes malabsorption and adrenal calcification.
What a diagnosis changes
Enzyme replacement therapy (sebelipase alfa) is available, and the condition can be mistaken for fatty liver disease or familial hypercholesterolaemia.
Genes analysed
Also known as
LAL deficiency
Includes 2 related subtypes ↓Hide subtypes ↑
- cholesteryl ester storage disease
- Wolman disease
