Search
Niemann-Pick disease type C2
Subacute or juvenile form (type C).
Epidemiology:
- 5% of Niemann-Pick disease type C
- may appear early in life or be delayed into the teen years
Pathology:
1) cholesterol esterification defect
2) cholesterol accumulation in lysosomes
3) sphingomyelinase deficiency not demonstrated.
Genetics:
- associated with defects in NPC2 (HE1)
Clinical manifestations:
1) hepatosplenomegaly (moderate)
2) brain damage may be extensive
3) inability to look up & down
4) ataxia
5) dysphagia
6) loss of vision
7) hearing loss
Management:
1) low-cholesterol diet often recommended, but benefit limited
2) prognosis is variable; some patients live into adulthood
Related
cholesterol
epididymal secretory protein E1; human epididymis-specific protein 1; He1; Niemann-Pick disease type C2 protein (NPC2, HE1)
sphingomyelin
General
Niemann-Pick disease type C
Properties
ACCUMULATION: sphingomyelin
cholesterol
Database Correlations
OMIM 601015
MORBIDMAP 601015
References
- NINDS Niemann-Pick Disease Information Page
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page