Lysosomal acid lipase deficiency
ORPHA:275761· ICD-10 E75.5
Definition
A rare, progressive metabolic liver disease due to marked to complete lysosomal acid lipase deficiency and characterized by dyslipidemia and massive lipid accumulation leading to hepatomegaly and liver dysfunction, splenomegaly, accelerated atherosclerosis.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal