<abstract xmlns="http://www.w3.org/1999/xhtml">

<bold>Objectives.</bold> We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
<bold>Case report.</bold> A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient’s symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega 3, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health.
<bold>Conclusions.</bold> We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.
</abstract>

Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Case report. A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient’s symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega 3, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health.
Conclusions. We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.

Nutrition management of Niemann Pick disease type C: A case report

Nucleus of Research and Extension in Nutritional Genomics and Metabolic Dysfunctions (GENUT), Life Sciences Department

University Hospital of Federal University of Sergipe

Coordinator of Nutrition Course and GENUT, Life Sciences Department

UNEB; Interactive Process of Organs and Systems, Health Sciences Institute/UFBA

Endocrine Regulations

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Nutrition management of Niemann Pick disease type C: A case report"}

Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat...

Nutrition management of Niemann Pick disease type C: A case report

Published Online: Dec 07, 2021

Page range: 238 - 241

DOI: https://doi.org/10.2478/enr-2021-0026

Keywords
Niemann Pick type C disease, nutrition, rare diseases, miglustat, intestinal dysbiosis

© 2021 Rejane Viana dos Santos et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Nutrition management of Niemann Pick disease type C: A case report

Published Online: Dec 07, 2021

Page range: 238 - 241

DOI: https://doi.org/10.2478/enr-2021-0026

KeywordsNiemann Pick type C disease, nutrition, rare diseases, miglustat, intestinal dysbiosis

© 2021 Rejane Viana dos Santos et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
Niemann Pick type C disease, nutrition, rare diseases, miglustat, intestinal dysbiosis