title: The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease.
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.
authors.affiliation: Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Amiri
authors.affiliation: Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
authors.forename: Eva-Maria
authors.initials: EM
authors.lastname: Kuech
authors.affiliation: Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
authors.forename: Hadeel
authors.initials: H
authors.lastname: Shammas
authors.affiliation: Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany.
authors.forename: Gabi
authors.initials: G
authors.lastname: Wetzel
authors.affiliation: Department of Physiological Chemistry, University of Veterinary Medicine Hannover, Buenteweg 17, 30559, Hannover, Germany. Hassan.Naim@tiho-hannover.de.
authors.forename: Hassan Y
authors.initials: HY
authors.lastname: Naim