Niemann-Pick disease

Introduction

inherited metabolic disorder

Epidemiology

• type A is the most common type

Pathology

• in types A & B, insufficient activity of sphingomyelinase causes lysosomal accumulation sphingomyelin in spleen, liver, lungs, bone marrow, brain (type A)
• types C & D are characterized by a defect that results in lysosomal accumulation of cholesterol within the brain

Genetics

• associated with defects in SMPD1 (types A & B)

Laboratory

• acid sphingomyelinase in leukocytes
• acid sphingomyelinase in dried blood spot

Management

• see specific type

More general terms

• sphingolipidosis; sphingolipodystrophy; cerebral lipidosis

More specific terms

• Niemann-Pick disease type A (acute neuronopathic form)
• Niemann-Pick disease type B
• Niemann-Pick disease type C
• Niemann-Pick disease type D (without sphingomyelinase deficiency)
• Niemann-Pick disease type E

Additional terms

• Pick's disease

Patient information

Niemann-Pick disease patient information

Database

• OMIM: https://mirror.omim.org/entry/257200
• OMIM: https://mirror.omim.org/entry/257220
• OMIM: https://mirror.omim.org/entry/257250