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.