Niemann-Pick Disease Type A and B- Natural History Of Lysosomal Sphingomyelinase

  • Klaus Feriinz
  • Konrad Sandhoff
Conference paper
Part of the NATO ASI Series book series (volume 91)


In 1914 the German physician Albert Niemann reported upon a child affected with hepatosplenomegaly, lymphadenopathy and impairment of the central nervous system who died before 2 years of age [Niemann, 1914]. Histological studies on pathological cells performed by Ludwig Pick revealed the occurrence of characteristic foamy cells, similar but not identical with those found in Gaucher disease [Pick, 1927]. In 1934, E. Klenk discovered a massive accumulation of sphin-gomyelin in tissue of patients [Klenk, 1935]. Due to the broad heterogeneity of clinical and pathological manifestations, classification of Niemann-Pick disease in three distinct types A, B and C was proposed by Crocker in 1961 [Crocker, 1961]. Types D-F, showing different pathobiological properties, have been added during the following years. In 1965, R.O. Brady and coworkers finally demonstrated a profound decrease in acid sphingomyelinase activity in affected cells [Brady et al., 1966].


Gauche Disease Residual Enzyme Activity Metachromatic Leukodystrophy Acid Sphingomyelinase Sphingomyelinase Activity 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1995

Authors and Affiliations

  • Klaus Feriinz
    • 1
  • Konrad Sandhoff
    • 1
  1. 1.Institut für Organische Chemie und BiochemieUniversität BonnBonnGermany

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