Wolman sykdom
Engelsk navn: Wolman disease
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.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 75233
Klassifiseringsnivå: Subtype of disorderICD-10: E75.5