Wolman disease

Definition

A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.

Disease data

Classification

Clinical subtype

ORPHA code

75233

OMIM code

278000

ICD10 code

E75.5

ICD11 code

5C56.0Y

*Soruce