Niemann-Pick disease type D (without sphingomyelinase deficiency)
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Introduction
Nova Scotian variant (type D).
Epidemiology
- occurs only in people with an ancestral background in Nova Scotia
Pathology
- sphingomyelinase deficiency not demonstrated
Genetics
- associated with defects in NPC1
Laboratory
Management
- low-cholesterol diet often recommended, but benefit limited
More general terms
References
- ↑ NINDS Niemann-Pick Disease Information Page https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page