Search
Niemann-Pick disease type A (acute neuronopathic form)
Classical infantile form (type A).
Epidemiology:
- most common form of Niemann-Pick disease
Pathology:
- insufficient activity of sphingomyelinase causes lysosomal accumulation sphingomyelin in spleen, liver, lungs, bone marrow, brain (type A)
Genetics:
- associated with defects in SMPD1
Clinical manifestations:
1) jaundice
2) hepatomegaly
3) profound brain damage
4) onset by 6 months
5) death by 3 years (rarely beyond 18 months)
Laboratory:
- sphingomyelinase in blood
- acid sphingomyelinase in leukocytes
- acid sphingomyelinase in dried blood spot
- see ARUP consult [1]
Management:
-> no effective treatment
Related
chromosomal aberration
sphingomyelin
sphingomyelinase, sphinogomyelin phosphodiesterase
General
Niemann-Pick disease
Properties
ACCUMULATION: sphingomyelin
DEFICIENCY: sphingomyelinase
Database Correlations
OMIM 257200
References
- ARUP Consult: Jewish Genetic Disease
The Physician's Guide to Laboratory Test Selection & Interpretation
- Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm
https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
- Ashkenazi Jewish Genetic Diseases Panel
https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel
- NINDS Niemann-Pick Disease Information Page
https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page