Genetic Aspects of Intestinal Sucrase‐isomaltase Deficiency

SYNOPSIS Disaccharidase levels in duodenal biopsy specimens from parents and siblings of 4 children presenting with symptoms of intestinal sucrase and isomaltase deficiency have been compared with those from a group of normal adults and children. The data obtained indicate a recessive mode of inheritance of this double enzyme deficiency. It is suggested that intestinal sucrase‐isomaltase deficiency might not be rare, and the means by which the homozygotes and heterozygotes for this disorder could be identified by quantitative disaccharidase assay, are proposed.