Niemann-Pick disease type A (acute neuronopathic form)

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Introduction

Classical infantile form (type A).

Epidemiology

Pathology

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

Management

  • no effective treatment

More general terms

References

  1. 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
  2. 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

Database