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

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JIMD Reports, Volume 25

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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.

Competing interests: None declared

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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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Correspondence to Hassan Y. Naim .

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Communicated by: Alberto B Burlina, M.D.


Take-Home Message

Gastrointestinal symptoms observed in NPC patients can be due to reduced enzyme activities and lipid raft association of major intestinal disaccharidases.

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Conflict of Interest

Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas, Gabi Wetzel and Hassan Y. Naim declare that they have no conflict of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from the patient for being included in the study.

Details on the Contributions of Individual Authors

Mahdi Amiri, Eva-Maria Kuech, Hadeel Shammas and Gabi Wetzel have equally contributed to designing and performing the experiments, analyzing the data and drafting the manuscript. Hassan Y. Naim has designed the concept of the study and written the final manuscript.

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Amiri, M., Kuech, EM., Shammas, H., Wetzel, G., Naim, H.Y. (2015). The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 25. JIMD Reports, vol 25. Springer, Berlin, Heidelberg.

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  • Print ISBN: 978-3-662-49667-1

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