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.