Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain. Children with chronic, idiopathic diarrhea or abdominal pain will have their sucrose-isomaltase gene assessed for a panel of known CSID mutations to determine the prevalence of these mutations in an enriched population and also determine functional deficiency using a breath test.
Study Type
OBSERVATIONAL
Enrollment
53
Children's Hospital Los Angeles
Los Angeles, California, United States
Children's Hospital and Research Center of Oakland
Oakland, California, United States
Prevalence of CSID Genetic Variants
Prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.
Time frame: 1 year
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Children's Hospital of Colorado
Aurora, Colorado, United States
Arnold Palmer Children's Hospital
Orlando, Florida, United States
Children's Center for Digestive Healthcare
Atlanta, Georgia, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Riley Hospital for Children
Indianapolis, Indiana, United States
Johns Hopkins Children's Center
Baltimore, Maryland, United States
Massachusetts General Hospital
Boston, Massachusetts, United States
University of Mississippi Medical Center
Jackson, Mississippi, United States
...and 9 more locations