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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...

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Autores principales: Iaccarino Idelson, Paola, Speranza, Enza, Marra, Maurizio, Pasanisi, Fabrizio, Sammarco, Rosa, Galletti, Ferruccio, Strazzullo, Pasquale, Barbato, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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