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Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant
RATIONALE: Congenital glucose–galactose malabsorption (CGGM) is a rare, autosomal recessive, hereditary disease that usuallypresents in newborns. CGGM manifests as severe diarrhea, hyperosmolar dehydration, and malnutrition. It does not respond to routine treatment and often is life-threatening. PAT...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831416/ https://www.ncbi.nlm.nih.gov/pubmed/31415402 http://dx.doi.org/10.1097/MD.0000000000016828 |
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author | Ma, Ming Long, Qi Chen, Fei Zhang, Ting Lu, Mengshan Wang, Weiyan Chen, Lihua |
author_facet | Ma, Ming Long, Qi Chen, Fei Zhang, Ting Lu, Mengshan Wang, Weiyan Chen, Lihua |
author_sort | Ma, Ming |
collection | PubMed |
description | RATIONALE: Congenital glucose–galactose malabsorption (CGGM) is a rare, autosomal recessive, hereditary disease that usuallypresents in newborns. CGGM manifests as severe diarrhea, hyperosmolar dehydration, and malnutrition. It does not respond to routine treatment and often is life-threatening. PATIENT CONCERNS: We described a Chinese infant girl with refractory diarrhea, who suffered from severe dehydration and malnutrition even if with fluid replacement therapy and fed with several special formulas. DIAGNOSES: The genetic analysis identified CGGM with SLC5A1 mutations. c.1436G > C (p.R479T) was a novel mutation. INTERVENTIONS: The patient was managed by free-glucose and galactose formula, and then special low-carbohydrate dietary therapy. OUTCOMES: The patient improved immediately after starting a free-glucose and galactose formula, and kept healthy with special low-carbohydrate diet. She had been followed up with nutritional management for 20 months. LESSONS: This report highlights the importance of differential diagnosis of congenital diarrhea and enteropathies. For CGGM, free-glucose and galactose milk powder was the most effective treatment. Low-carbohydrate diet gradually introduced was still a great challenge that requires continuing guidance from child nutritionists and dietitians. Long-term nutrition management was extremely important to ensure the normal growth and development of children. |
format | Online Article Text |
id | pubmed-6831416 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-68314162019-11-19 Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant Ma, Ming Long, Qi Chen, Fei Zhang, Ting Lu, Mengshan Wang, Weiyan Chen, Lihua Medicine (Baltimore) 5500 RATIONALE: Congenital glucose–galactose malabsorption (CGGM) is a rare, autosomal recessive, hereditary disease that usuallypresents in newborns. CGGM manifests as severe diarrhea, hyperosmolar dehydration, and malnutrition. It does not respond to routine treatment and often is life-threatening. PATIENT CONCERNS: We described a Chinese infant girl with refractory diarrhea, who suffered from severe dehydration and malnutrition even if with fluid replacement therapy and fed with several special formulas. DIAGNOSES: The genetic analysis identified CGGM with SLC5A1 mutations. c.1436G > C (p.R479T) was a novel mutation. INTERVENTIONS: The patient was managed by free-glucose and galactose formula, and then special low-carbohydrate dietary therapy. OUTCOMES: The patient improved immediately after starting a free-glucose and galactose formula, and kept healthy with special low-carbohydrate diet. She had been followed up with nutritional management for 20 months. LESSONS: This report highlights the importance of differential diagnosis of congenital diarrhea and enteropathies. For CGGM, free-glucose and galactose milk powder was the most effective treatment. Low-carbohydrate diet gradually introduced was still a great challenge that requires continuing guidance from child nutritionists and dietitians. Long-term nutrition management was extremely important to ensure the normal growth and development of children. Wolters Kluwer Health 2019-08-16 /pmc/articles/PMC6831416/ /pubmed/31415402 http://dx.doi.org/10.1097/MD.0000000000016828 Text en Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | 5500 Ma, Ming Long, Qi Chen, Fei Zhang, Ting Lu, Mengshan Wang, Weiyan Chen, Lihua Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title | Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title_full | Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title_fullStr | Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title_full_unstemmed | Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title_short | Nutrition management of congenital glucose–galactose malabsorption: Case report of a Chinese infant |
title_sort | nutrition management of congenital glucose–galactose malabsorption: case report of a chinese infant |
topic | 5500 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6831416/ https://www.ncbi.nlm.nih.gov/pubmed/31415402 http://dx.doi.org/10.1097/MD.0000000000016828 |
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