Orphanet: Lysosomal acid lipase deficiency
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Lysosomal acid lipase deficiency

Disease 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.

ORPHA:275761

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

Detailed information

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