Disorders

Congenital Sucrase-Isomaltase Deficiency

Synonym(s): Congenital Sucrose Intolerance, Congenital Sucrose-Isomaltose Malabsorption, CSID, Disaccharide Intolerance I, SI Deficiency

OMIM

Gene	Locus	Protein
SI	3q25.2-q26.2	Sucrase-isomaltase, intestinal

Laboratory	Test Method	Prenatal	Carrier *
University of Washington, Molecular Development Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.