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Niemann-Pick disease type D (without sphingomyelinase deficiency)
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:
- NPC1 gene mutation
Management:
-> low-cholesterol diet often recommended, but benefit limited
Related
chromosomal aberration
sphingomyelin
General
Niemann-Pick disease
Properties
ACCUMULATION: sphingomyelin
Database Correlations
OMIM 257250
References
- NINDS Niemann-Pick Disease Information Page
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page