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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease
Mahdi Amiri1, Eva-Maria Kuech1, Hadeel Shammas1
1Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
Abstract:
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.
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