Glucose-galactose malabsorption in an Oriental-Iraqui Jewish family

Abstract

Three offspring of 2 consanguineous marriages in an Iraqui-Babylonian Jewish family developed a chronic, watery, acid diarrhea, with severe hypernatremic dehydration, shortly after birth. Two of the infants died, with no apparent abnormality of the gastrointestinal tract. The third was proved to be suffering from glucose-galactose malabsorption. No glycosuria was found. Gastrointestinal protein loss was demonstrated in 2 of the infants. The results of oral glucose and galactose tolerance tests carried out in the parents of the affected infants were normal. The mode of inheritance is compatible with transmission through an autosomal recessive gene. A follow-up of 1 1/2 years in the surviving patient indicates an improvement in the toleration of glucose and sucrose as the child has grown older. Three offspring of 2 consanguineous marriages in an Iraqui-Babylonian Jewish family developed a chronic, watery, acid diarrhea, with severe hypernatremic dehydration, shortly after birth. Two of the infants died, with no apparent abnormality of the gastrointestinal tract. The third was proved to be suffering from glucose-galactose malabsorption. No glycosuria was found. Gastrointestinal protein loss was demonstrated in 2 of the infants. The results of oral glucose and galactose tolerance tests carried out in the parents of the affected infants were normal. The mode of inheritance is compatible with transmission through an autosomal recessive gene. A follow-up of 1 1/2 years in the surviving patient indicates an improvement in the toleration of glucose and sucrose as the child has grown older.