Niemann-Picks sykdom A
Engelsk navn: Infantile neurovisceral acid sphingomyelinase deficiency
Engelske synonym: Infantile neurovisceral ASMD,NPD-A,Niemann-Pick disease type A
A rare, autosomal recessive, acid sphingomyelinase deficiency characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, interstitial lung disease and rapidly progressive neurodegenerative disorders.
Informasjon
Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 77292
Klassifiseringsnivå: DisorderICD-10: E75.2