title: Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  Early recognition and management of this condition are crucial to prevent consequences of dehydration and death.
authors.affiliation: Department of Paediatrics, Division of Paediatric Gastroenterology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: osaadah@kau.edu.sa.
authors.forename: Omar I
authors.initials: OI
authors.lastname: Saadah
authors.affiliation: Department of Paediatrics, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia. Electronic address: Dral-ghamdi2005@hotmail.com.
authors.forename: Sharifa A
authors.initials: SA
authors.lastname: Alghamdi
authors.affiliation: Department of Paediatrics, Maternity Children Hospital, Jeddah, Saudi Arabia. Electronic address: haifa_hasan@hotmail.com.
authors.forename: Haifa H
authors.initials: HH
authors.lastname: Sindi
authors.affiliation: Department of Paediatrics, Maternity Children Hospital, Jeddah, Saudi Arabia. Electronic address: dr.huda.alhunitti@gmail.com.
authors.forename: Huda
authors.initials: H
authors.lastname: Alhunaitti
authors.affiliation: Department of Paediatrics, Division of Paediatric Gastroenterology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: yybintaleb@hotmail.com.
authors.forename: Yagoub Y
authors.initials: YY
authors.lastname: Bin-Taleb
authors.affiliation: Department of Paediatrics, Division of Paediatric Gastroenterology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: bakrhilal@yahoo.com.
authors.forename: Bakr H
authors.initials: BH
authors.lastname: Alhussaini
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D000141:Acidosis, Renal Tubular / Q000209:etiology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy; D002657:Child Development; D003681:Dehydration / Q000209:etiology / Q000628:therapy; D003967:Diarrhea / Q000209:etiology; D005260:Female; D006801:Humans; D006955:Hypernatremia / Q000209:etiology; D007223:Infant; D041943:Infant Formula; D007231:Infant, Newborn; D007669:Kidney Calculi / Q000209:etiology; D008286:Malabsorption Syndromes / Q000150:complications / Q000151:congenital* / Q000175:diagnosis / Q000178:diet therapy; D008297:Male; D009397:Nephrocalcinosis / Q000209:etiology; D012189:Retrospective Studies; D012529:Saudi Arabia; D015430:Weight Gain
keywords: CGGM; Children; Diarrhoea; Glucose–galactose; Renal stones; Saudi Arabia