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Niemann-Pick disease type B
Visceral form (type B).
Genetics:
- associated with defects in SMPD1
Clinical manifestations:
1) hepatosplenomegaly, generally in the pre-teen years
2) patients remain free of neurologic manifestations despite massive visceral involvement
Laboratory:
- acid sphingomyelinase in leukocytes
- acid sphingomyelinase in dried blood spot
Management:
1) many require supplemental oxygen because of lung disease
2) bone marrow transplantation may be helpful
3) enzyme replacement & gene therapy may someday be helpful
3) prognosis:
- type B patients generally live into adulthood
Related
chromosomal aberration
sphingomyelin
sphingomyelinase, sphinogomyelin phosphodiesterase
General
Niemann-Pick disease
Properties
ACCUMULATION: sphingomyelin
DEFICIENCY: sphingomyelinase
Database Correlations
OMIM 257200
References
- NINDS Niemann-Pick Disease Information Page
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page