%0 Case Reports
%T Nutrition management of congenital glucose-galactose malabsorption: Case report of a Chinese infant.
%A Ma M
%A Long Q
%A Chen F
%A Zhang T
%A Lu M
%A Wang W
%A Chen L
%J Medicine (Baltimore)
%V 98
%N 33
%D Aug 2019
%M 31415402
%F 1.817
%R 10.1097/MD.0000000000016828
%X <B>BACKGROUND: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>The genetic analysis identified CGGM with SLC5A1 mutations. c.1436G > C (p.R479T) was a novel mutation.<BR><B>METHODS: </B>The patient was managed by free-glucose and galactose formula, and then special low-carbohydrate dietary therapy.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.