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

Endocr Regul

Coordinator of Nutrition Course and GENUT, Life Sciences Department/UNEB; Interactive Process of Organs and Systems, Health Sciences Institute/UFBA, Salvador-BA, Brazil.

Published: December 2021

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. 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. 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.

Download full-text PDF

Source
http://dx.doi.org/10.2478/enr-2021-0026DOI Listing

Publication Analysis

Top Keywords

niemann pick
8
pick disease
8
disease type
8
npc miglustat
8
nutritional prescription
8
nutrition management
4
management niemann
4
type case
4
case report
4
report aim
4

Similar Publications

Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.

J Pediatr Endocrinol Metab

January 2025

Department of Pediatric Metabolism and Ankara University Rare Diseases Application and Research Center, Ankara University Faculty of Medicine, Ankara, Türkiye.

Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the or genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.

View Article and Find Full Text PDF

The European Commission authorized the use of dried yellow mealworm (Tenebrio molitor - TM) as a food ingredient under Regulation EU 2021/882. As TM emerges as an important allergen source, sensitization and allergy to TM in various populations need investigation. The aim of this study was to assess the incidence of sensitization to TM before its introduction as a food ingredient in Poland, as well as checking the occurrence of co-sensitivity to TM and other invertebrate allergenic extracts and molecules.

View Article and Find Full Text PDF

The multiple facets of Rab proteins modulating the cellular distribution of cholesterol from the late endosomal compartment.

Biochim Biophys Acta Mol Cell Res

January 2025

School of Pharmacy, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia. Electronic address:

Cholesterol is an essential lipid that ensures the functional integrity of mammalian cells. Most cells acquire cholesterol via endocytosis of low-density lipoproteins (LDL). Upon reaching late endosomes/lysosomes (LE/Lys), incoming ligands, including LDL-derived cholesterol, are distributed to other organelles.

View Article and Find Full Text PDF

Reply to "Levacetylleucine a game changer for Niemann-Pick disease type-C".

Brain Dev

January 2025

Department of Clinical Chemistry and Informatics, Graduate School of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan; Department of Pharmaceutical Packaging Technology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

View Article and Find Full Text PDF

NPC1 controls TGFBR1 stability in a cholesterol transport-independent manner and promotes hepatocellular carcinoma progression.

Nat Commun

January 2025

State Key Laboratory of Medical Proteomics, National Center for Protein Sciences (Beijing), Beijing Proteome Research Center, Beijing Institute of Lifeomics, Beijing, China.

Niemann-Pick disease type C protein 1 (NPC1), classically associated with cholesterol transport and viral entry, has an emerging role in cancer biology. Here, we demonstrate that knockout of Npc1 in hepatocytes attenuates hepatocellular carcinoma (HCC) progression in both DEN (diethylnitrosamine)-CCl induced and MYC-driven HCC mouse models. Mechanistically, NPC1 significantly promotes HCC progression by modulating the TGF-β pathway, independent of its traditional role in cholesterol transport.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!