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Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature

Glycogen storage disease Type III (GSD III) is an autosomal recessive disease due to the deficiency of the debranching enzyme, which has two main consequences: a reduced availability of glucose due to the incomplete degradation of glycogen, and the accumulation of abnormal glycogen in liver and card...

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Autores principales: Massimino, Elena, Amoroso, Anna Paola, Lupoli, Roberta, Rossi, Alessandro, Capaldo, Brunella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213733/
https://www.ncbi.nlm.nih.gov/pubmed/37252245
http://dx.doi.org/10.3389/fnut.2023.1178348
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author Massimino, Elena
Amoroso, Anna Paola
Lupoli, Roberta
Rossi, Alessandro
Capaldo, Brunella
author_facet Massimino, Elena
Amoroso, Anna Paola
Lupoli, Roberta
Rossi, Alessandro
Capaldo, Brunella
author_sort Massimino, Elena
collection PubMed
description Glycogen storage disease Type III (GSD III) is an autosomal recessive disease due to the deficiency of the debranching enzyme, which has two main consequences: a reduced availability of glucose due to the incomplete degradation of glycogen, and the accumulation of abnormal glycogen in liver and cardiac/skeletal muscle. The role of dietary lipid manipulations in the nutritional management of GSD III is still debated. A literature overview shows that low-carbohydrate (CHO) / high-fat diets may be beneficial in reducing muscle damage. We present a 24-year GSD IIIa patient with severe myopathy and cardiomyopathy in whom a gradual shift from a high-CHO diet (61% total energy intake), low-fat (18%), high-protein (21%) to a low-CHO (32 %) high-fat (45%) / high-protein (23%) diet was performed. CHO was mainly represented by high-fiber, low glycemic index food, and fat consisted prevalently of mono and polyunsaturated fatty acids. After a 2-year follow-up, all biomarkers of muscle and heart damage markedly decreased (by 50–75%), glucose levels remained within the normal range and lipid profile was unchanged. At echocardiography, there was an improvement in geometry and left ventricular function. A low -CHO, high-fat, high-protein diet seems to be safe, sustainable and effective in reducing muscle damage without worsening cardiometabolic profile in GSDIIIa. This dietary approach could be started as early as possible in GSD III displaying skeletal/cardiac muscle disease in order to prevent/minimize organ damage.
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spelling pubmed-102137332023-05-27 Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature Massimino, Elena Amoroso, Anna Paola Lupoli, Roberta Rossi, Alessandro Capaldo, Brunella Front Nutr Nutrition Glycogen storage disease Type III (GSD III) is an autosomal recessive disease due to the deficiency of the debranching enzyme, which has two main consequences: a reduced availability of glucose due to the incomplete degradation of glycogen, and the accumulation of abnormal glycogen in liver and cardiac/skeletal muscle. The role of dietary lipid manipulations in the nutritional management of GSD III is still debated. A literature overview shows that low-carbohydrate (CHO) / high-fat diets may be beneficial in reducing muscle damage. We present a 24-year GSD IIIa patient with severe myopathy and cardiomyopathy in whom a gradual shift from a high-CHO diet (61% total energy intake), low-fat (18%), high-protein (21%) to a low-CHO (32 %) high-fat (45%) / high-protein (23%) diet was performed. CHO was mainly represented by high-fiber, low glycemic index food, and fat consisted prevalently of mono and polyunsaturated fatty acids. After a 2-year follow-up, all biomarkers of muscle and heart damage markedly decreased (by 50–75%), glucose levels remained within the normal range and lipid profile was unchanged. At echocardiography, there was an improvement in geometry and left ventricular function. A low -CHO, high-fat, high-protein diet seems to be safe, sustainable and effective in reducing muscle damage without worsening cardiometabolic profile in GSDIIIa. This dietary approach could be started as early as possible in GSD III displaying skeletal/cardiac muscle disease in order to prevent/minimize organ damage. Frontiers Media S.A. 2023-05-11 /pmc/articles/PMC10213733/ /pubmed/37252245 http://dx.doi.org/10.3389/fnut.2023.1178348 Text en Copyright © 2023 Massimino, Amoroso, Lupoli, Rossi and Capaldo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Nutrition
Massimino, Elena
Amoroso, Anna Paola
Lupoli, Roberta
Rossi, Alessandro
Capaldo, Brunella
Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title_full Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title_fullStr Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title_full_unstemmed Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title_short Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature
title_sort nutritional management of glycogen storage disease type iii: a case report and a critical appraisal of the literature
topic Nutrition
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10213733/
https://www.ncbi.nlm.nih.gov/pubmed/37252245
http://dx.doi.org/10.3389/fnut.2023.1178348
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