A Rare Lysosomal Storage Disease

New therapies – Niemann-Pick type C disease

New therapies – Niemann-Pick type C disease

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Authors: James E Wraith, Jackie Imrie
Published Date November 2009

James E Wraith, Jackie Imrie

Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK

Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.

Read the full abstract here.


*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.

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