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Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.


ABSTRACT: 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.

SUBMITTER: Ma M 

PROVIDER: S-EPMC6831416 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.

Ma Ming M   Long Qi Q   Chen Fei F   Zhang Ting T   Lu Mengshan M   Wang Weiyan W   Chen Lihua L  

Medicine 20190801 33


<h4>Rationale</h4>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.<h4>Patient concerns</h4>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 sever  ...[more]

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