Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)
Autozomálně recesivní
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.
Co se diagnózou změní
Enzyme replacement therapy (sebelipase alfa) is available, and the condition can be mistaken for fatty liver disease or familial hypercholesterolaemia.
Analyzované geny
Známé také jako
LAL deficiency
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- cholesteryl ester storage disease
- Wolman disease
