The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease

  • Mahdi Amiri
  • Eva-Maria Kuech
  • Hadeel Shammas
  • Gabi Wetzel
  • Hassan Y. NaimEmail author
Research Report
Part of the JIMD Reports book series (JIMD, volume 25)


The molecular basis of gastrointestinal intolerances in a severe case of Niemann-Pick type C disease was analyzed in an intestinal biopsy specimen. The enzyme activities of intestinal sucrase-isomaltase and maltase-glucoamylase are reduced in the patient, while that of lactase is comparable to the control. The association of SI with lipid rafts is reduced in the patient’s biopsy as a consequence of altered composition of membrane microdomains. As association with lipid rafts influences the intracellular transport and the enzyme activities of sucrase-isomaltase and maltase-glucoamylase, these data explain reduced carbohydrate digestion in the intestinal lumen and delineate the effect of deficient cholesterol and sphingolipid homeostasis in development of gastrointestinal symptoms in NPC patients.


Lipid Raft Lysosomal Storage Disease Substrate Reduction Therapy Microvillus Membrane NPC1 Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors would like to thank the patient and her family as well as the Clinic of Pediatrics of the University Hospital Bonn, Germany, for donating the biopsy.

During the course of this work Hadeel Shammas was recipient of a Ph.D. scholarship from the German Academic Exchange Service (DAAD), Bonn, Germany.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Mahdi Amiri
    • 1
  • Eva-Maria Kuech
    • 1
  • Hadeel Shammas
    • 1
  • Gabi Wetzel
    • 1
  • Hassan Y. Naim
    • 1
    Email author
  1. 1.Department of Physiological ChemistryUniversity of Veterinary Medicine HannoverHannoverGermany

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