Lysosomal acid lipase deficiency

Orpha code: 275761OMIM code: 278000

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.

Disease data
Classification

Disease

Synonyms
LAL deficiency
Niedobór LAL
ORPHA code
275761
OMIM code
278000
ICD10 code
E75.5
ICD11 code
5C56.0Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl