Wolman sykdom
Engelsk navn: Wolman disease
Definisjon
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.
Fra Orphanet
ORPHA: 75233
Klassifiseringsnivå: Subtype of disorder
ICD-10: E75.5