A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B

Tohoku J Exp Med. 1975 Oct;117(2):193-5. doi: 10.1620/tjem.117.193.

Abstract

[Methyl-14C]sphingomyelin was synthesized by the method of Stoffel et al. (1971). A profound deficiency of sphingomyelinase activity was found in liver tissue from two sibling patients with Niemann-Pick disease type B.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Humans
  • Liver / enzymology
  • Male
  • Niemann-Pick Diseases / enzymology*
  • Niemann-Pick Diseases / genetics
  • Phosphoric Diester Hydrolases / deficiency*
  • Sphingomyelin Phosphodiesterase / deficiency*

Substances

  • Phosphoric Diester Hydrolases
  • Sphingomyelin Phosphodiesterase