A Case Report of Congenital Glucose-galactose Malabsorption and Literature Review

<i>Objective</i>: To investigate the clinical and genetic characteristics of congenital glucose-galactose malabsorption (CGGM). <i>Method</i>: Clinical manifestations and treatment Discuss of one patient with CGGM in our hospital in February 2024 were retrospectively analyzed. Combined with literature search, and the clinical features of CGGM reported in litemtures were summarized. <i>Result</i>: The patient in our hospital was a full-tem female infant. The onset of the disease was on the 3th day after birth,and the clinical manifestations includeddiarrhea, watery stools, severe dehydration, hypernatremia, metabolic acidosis, and 20% weight loss. After admission, dehydration, hypernatremia and metabolic acidosis were corrected after symptomatic treatment such as intravenous fluid rehydration, but diarrhea did not improve, stool characteristics did not improve, and weight gain was poor. The results of whole gene exon examination showed two mutations in SLC5A1 gene: c.1467 (exon13_c.1478 (ex on13) delGATCCTAGGACT, c.1228 (exon11) T>A, which confirmed cGGM. After diagnosis 52 days after birth, she was fed with special formula (galactomin 19) supplemented with fructose, and diarrhea stopped. 80 days after birth, the child weighed 4500g, length 56cm, growth significantly improved, stool characteristics normal. Literature search PubMed, CNKI.com, Wanfang database, a total of 9 case reports with clinical data and gene mutation analysis were retrieved, and a total of 20 cases of glucose/galactose malabsorption were reported. The main clinical features were diarrhea, hypernatremia, dehydration and malnutrition. The effect of feeding carb free formula or fructose matrix formula was satisfactory, the physical development and nervous system development were normal. <i>Conclusion</i>: CGGM is a rare disease, which can occur in the neonatal period, mainly manifested as repeated diarrhea, watery stool, and often accompanied by severe hypertonic dehydration, hypernatremia and other complications. CGGM can be clearly diagnosed by SLC5Al gene detection and typical clinical manifestations, and fed with special formula supplemented with fructose (galactomin 19) with satisfactory efficacy.