Niemann-Pick disease type A (acute neuronopathic form)
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Introduction
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
- jaundice
- hepatomegaly
- profound brain damage
- onset by 6 months
- 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
More general terms
References
- ↑ 1.0 1.1 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
Patient information
Niemann-Pick disease tyoe A patient information