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Lysosomal acid lipase deficiency

Disease definition

Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.

ORPHA:275761

  • Synonym(s):
    • LAL deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.5
  • OMIM: 278000
  • UMLS: C2936797
  • MeSH: -
  • GARD: 12097
  • MedDRA: -

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