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Niemann-Pick disease

inherited metabolic disorder Epidemiology: -> type A is the most common type Pathology: 1) in types A & B, insufficient activity of sphingomyelinase causes lysosomal accumulation sphingomyelin in spleen, liver, lungs, bone marrow, brain (type A) 2) 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

Related

Pick's disease SMPD1 (sphingomyelin phosphodiesterase) gene mutation; Niemann-Pick Disease Interpretation sphingomyelin

Specific

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

General

sphingolipidosis; sphingolipodystrophy; cerebral lipidosis

Properties

ACCUMULATION: sphingomyelin

Database Correlations

OMIM correlations

References

  1. Textbook of Biochemistry with Clinical Correlations, 3rd ed., TM Devlin (ed), Wiley-Liss, NY 1992 pg 459
  2. NINDS Niemann-Pick Disease Information Page https://www.ninds.nih.gov/disorders/all-disorders/niemann-pick-disease-information-page