Congenital Sucrase‐Isomaltase Deficiency

Demographic and Clinical Correlates of Mucosal Disaccharidase Deficiencies in Children With Functional Dyspepsia

“…In addition, only certain specialized laboratories are able to perform the disaccharidase evaluation; therefore, availability may be more limited. Potential alternatives for disaccharidase evaluation in children with functional dyspepsia would include hydrogen breath testing, C 13 carbohydrate labeled breath testing, or carbohydrate tolerance tests with assessment of blood glucose following ingestion of a test carbohydrate (2, 5). While these have the advantage of being non-invasive, only a single test carbohydrate is evaluated at a time.…”

“…As seen in congenital sucrase isomaltase deficiency, disaccharidase deficiency may result in failure to thrive, bloating, abdominal pain, and changes in bowel habits (e.g., diarrhea). (5)…”

The clinical consequences of sucrase-isomaltase deficiency

“…More than 25 mutations within the human sucrase gene are responsible for these CSID phenotypes [ 14 ]. Some sucrase-isomaltase variants show classical autosomal recessive homozygous inheritance, while others demonstrate compound heterozygote inheritance [ 15 ]. Sucrase-isomaltase variants can occur on either sucrase or isomaltase subunits, resulting in varied effects on sucrase-isomaltase enzyme activity [ 16 ].…”

Sucrase-Isomaltase Deficiency Causing Persistent Bloating and Diarrhea in an Adult Female

“…Heterozygous carriers of certain CSID mutations may also experience the nonspecific gastrointestinal symptoms associated with CSID in homozygous individuals [9]. Due to the numerous mutations in the sucrase-isomaltase genes responsible for CSID phenotypes, some individuals with CSID may present with homozygosity, while others may inherit compound heterozygosity [10,11].…”