Catalog

Niemann-Pick disease type A

No MMS code

Link to WHO Definition

Niemann-Pick disease type A – http://id.who.int/icd/entity/530611243

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterised clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.