Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.

Abstract Background and study aims Congenital glucose galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by a defect in the sodium-coupled transport of glucose and galactose across the intestinal brush border presenting with neonatal diarrhoea. The aim of this study was to report the clinical and laboratory characteristics of patients with CGGM from the Western Saudi Arabia. Patients and methods This is a retrospective review of CGGM patients in three major hospitals in the city of Jeddah, Saudi Arabia, namely King Abdulaziz University Hospital, King Faisal Specialist Hospital and Research Centre, and Maternity Children Hospital in the period between November 2001 and October 2011. Results Twenty-four patients with CGGM have been described. The median age at diagnosis was 4.5 months. Twelve (50%) were males. Sixteen (66.7%) were Saudi and 8 (33.3%) were non Saudi (5 Arabs and 3 Asians). Parents of 21 patients were consanguineous. Nine (37.5%) had affected siblings with CGGM. All presented with diarrhoea resulted in dehydration. Hypernatremia was seen in 7 (29.2%) patients, renal tubular acidosis in 4 patients. Renal stones and nephrocalcinosis were detected in 3 (12.5%) patients at 8 months, 12 months and 7 years, respectively. The median follow up was 41.6 months. All but three demonstrated normal weight gain. Five patients reported one or more symptoms of bloating ( n  = 3), diarrhoea ( n  = 3) and abdominal pain ( n  = 1) during follow up. All had normal development and none had neurological complications secondary to dehydration. Conclusion Early recognition and management of this condition are crucial to prevent consequences of dehydration and death.