Prevalence of Known Congenital Sucrase-Isomaltase Deficiency Gene Mutations in Children with Functional Abdominal Pain and/or Functional Diarrhea

Chumpitazi, Bruno P.; Lewis, Jeffery D.; Elser, Heather E.; Cooper, Derick; D’Amato, Mauro; Lorenzo, Carlo Di

doi:10.1016/s0016-5085(17)32283-7

Cited by 2 publications

(3 citation statements)

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“…31 In a recently published abstract, children with functional bowel disorders (vs. a large population reference database) were found to have an increased prevalence of pathogenic sucrase-isomaltase gene variants. 32 Whether these genetic components are associated with sucrose and/or starch malabsorption remains to be determined.…”

Section: Introductionmentioning

confidence: 99%

Update on Dietary Management of Childhood Functional Abdominal Pain Disorders

Chumpitazi

2018

Gastroenterology Clinics of North America

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Section: Introductionmentioning

confidence: 99%

Update on Dietary Management of Childhood Functional Abdominal Pain Disorders

Chumpitazi

2018

Gastroenterology Clinics of North America

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“…Children with disorders of gut–brain interaction (DGBI) with a primary complaint of loose stools were found to have a higher prevalence of SI pathologic variants, the vast majority heterozygous, compared with those in a reference consortium database (4.5% vs. 1.3%, respectively) 28 . Children with DGBI who had primarily abdominal pain did not have a higher prevalence of SI pathologic variants compared with those in a reference consortium database, suggesting that loose stools may be an important phenotypic characteristic to help identify children with SI variants 29 . Personalized treatment studies based on the presence or absence of a single SI variant have not yet been completed in children.…”

Section: The Genetics Behind Gsidmentioning

confidence: 81%

“…28 Children with DGBI who had primarily abdominal pain did not have a higher prevalence of SI pathologic variants compared with those in a reference consortium database, suggesting that loose stools may be an important phenotypic characteristic to help identify children with SI variants. 29 Personalized treatment studies based on the presence or absence of a single SI variant have not yet been completed in children.…”

Section: Pathogenic Sucrase-isomaltase Genetic Variantsmentioning

confidence: 99%

Genetic and acquired sucrase‐isomaltase deficiency: A clinical review

Danialifar,

Chumpitazi,

Mehta

et al. 2024

J. pediatr. gastroenterol. nutr.

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Genetic sucrase‐isomaltase deficiency (GSID) is an inherited deficiency in the ability to digest sucrose and potentially starch due to mutations in the sucrase‐isomaltase (SI) gene. Congenital sucrase‐isomaltase deficiency is historically considered to be a rare condition affecting infants with chronic diarrhea as exposure to dietary sucrose begins. Growing evidence suggests that individuals with SI variants may present later in life, with symptoms overlapping with those of irritable bowel syndrome. The presence of SI genetic variants may, either alone or in combination, affect enzyme activity and lead to symptoms of different severity. As such, a more appropriate term for this inherited condition is GSID, with a recognition of a spectrum of severity and onset of presentation. Currently, disaccharidase assay on duodenal mucosal tissue homogenates is the gold standard in diagnosing SI deficiency. A deficiency in the SI enzyme can be present at birth (genetic) or acquired later, often in association with damage to the enteric brush‐border membrane. Other noninvasive diagnostic alternatives such as sucrose breath tests may be useful but require further validation. Management of GSID is based on sucrose and potentially starch restriction tailored to the individual patients' tolerance and symptoms. As this approach may be challenging, additional treatment with commercially available sacrosidase is available. However, some patients may require continued starch restriction. Further research is needed to clarify the true prevalence of SI deficiency, the pathobiology of single SI heterozygous mutations, and to define optimal diagnostic and treatment algorithms in the pediatric population.

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Prevalence of Known Congenital Sucrase-Isomaltase Deficiency Gene Mutations in Children with Functional Abdominal Pain and/or Functional Diarrhea

Cited by 2 publications

References 0 publications

Update on Dietary Management of Childhood Functional Abdominal Pain Disorders

Update on Dietary Management of Childhood Functional Abdominal Pain Disorders

Genetic and acquired sucrase‐isomaltase deficiency: A clinical review

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