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Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment
(1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expenditure (REE) in GD involved mainly untreated patients and supported a hypermetabolic condition possibly due to the associated inflammatory state. Definitive conclusions could not b...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9370155/ https://www.ncbi.nlm.nih.gov/pubmed/35956356 http://dx.doi.org/10.3390/nu14153180 |
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author | Iaccarino Idelson, Paola Speranza, Enza Marra, Maurizio Pasanisi, Fabrizio Sammarco, Rosa Galletti, Ferruccio Strazzullo, Pasquale Barbato, Antonio |
author_facet | Iaccarino Idelson, Paola Speranza, Enza Marra, Maurizio Pasanisi, Fabrizio Sammarco, Rosa Galletti, Ferruccio Strazzullo, Pasquale Barbato, Antonio |
author_sort | Iaccarino Idelson, Paola |
collection | PubMed |
description | (1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expenditure (REE) in GD involved mainly untreated patients and supported a hypermetabolic condition possibly due to the associated inflammatory state. Definitive conclusions could not be drawn also because of the heterogeneity and the small size of the samples investigated. In order to expand current knowledge concerning, in particular the condition of patients under Enzyme Replacement Therapy (ERT), we evaluated the nutritional status of a relatively large sample of GD patients followed at Federico II University Hospital in Naples, Italy. (2) Methods: The study, having a cross-sectional design and involving 26 patients on ERT, included routine biochemical analyses, bioelectrical impedance analysis, indirect calorimetry, and administration of food frequency and physical activity questionnaires. The results in GD patients were compared with those from an appropriate control group. (3) Results: GD patients had normal biochemical parameters in 80% of cases, except for HDL-cholesterol, consumed a hyper-lipidic diet, and had a 60% prevalence of overweight/obesity. Body composition did not differ between patients and controls; however, measured REE was significantly lower than predicted and was reduced in comparison with the healthy controls. (4) Conclusions: This study provided novel elements to the present knowledge about REE and the nutritional status of GD patients under ERT. Its results warrant confirmation in even larger GD population samples and a more in-depth investigation of the long-term effects of treatment superimposed on the basic pathophysiological disease condition. |
format | Online Article Text |
id | pubmed-9370155 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-93701552022-08-12 Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment Iaccarino Idelson, Paola Speranza, Enza Marra, Maurizio Pasanisi, Fabrizio Sammarco, Rosa Galletti, Ferruccio Strazzullo, Pasquale Barbato, Antonio Nutrients Article (1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expenditure (REE) in GD involved mainly untreated patients and supported a hypermetabolic condition possibly due to the associated inflammatory state. Definitive conclusions could not be drawn also because of the heterogeneity and the small size of the samples investigated. In order to expand current knowledge concerning, in particular the condition of patients under Enzyme Replacement Therapy (ERT), we evaluated the nutritional status of a relatively large sample of GD patients followed at Federico II University Hospital in Naples, Italy. (2) Methods: The study, having a cross-sectional design and involving 26 patients on ERT, included routine biochemical analyses, bioelectrical impedance analysis, indirect calorimetry, and administration of food frequency and physical activity questionnaires. The results in GD patients were compared with those from an appropriate control group. (3) Results: GD patients had normal biochemical parameters in 80% of cases, except for HDL-cholesterol, consumed a hyper-lipidic diet, and had a 60% prevalence of overweight/obesity. Body composition did not differ between patients and controls; however, measured REE was significantly lower than predicted and was reduced in comparison with the healthy controls. (4) Conclusions: This study provided novel elements to the present knowledge about REE and the nutritional status of GD patients under ERT. Its results warrant confirmation in even larger GD population samples and a more in-depth investigation of the long-term effects of treatment superimposed on the basic pathophysiological disease condition. MDPI 2022-08-03 /pmc/articles/PMC9370155/ /pubmed/35956356 http://dx.doi.org/10.3390/nu14153180 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Iaccarino Idelson, Paola Speranza, Enza Marra, Maurizio Pasanisi, Fabrizio Sammarco, Rosa Galletti, Ferruccio Strazzullo, Pasquale Barbato, Antonio Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title | Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title_full | Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title_fullStr | Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title_full_unstemmed | Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title_short | Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment |
title_sort | evaluation of the nutritional status of gaucher disease type i patients under enzyme replacement treatment |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9370155/ https://www.ncbi.nlm.nih.gov/pubmed/35956356 http://dx.doi.org/10.3390/nu14153180 |
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