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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...

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Autores principales: Ma, Ming, Long, Qi, Chen, Fei, Zhang, Ting, Lu, Mengshan, Wang, Weiyan, Chen, Lihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
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.
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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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