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GENETIC ASPECTS OF INTESTINAL SUCRASE‐ISOMALTASE DEFICIENCY
Author(s) -
KERRY K. R.,
TOWNLEY R. R. W.
Publication year - 1965
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1965.tb02532.x
Subject(s) - disaccharidase , sucrase , medicine , heterozygote advantage , endocrinology , enzyme , genetics , gene , genotype , biology , biochemistry , small intestine
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.