Congenital Sucrase Isomaltase Deficiency (CSID) is a rare genetic disorder that affects the ability to digest certain sugars. It is estimated to affect approximately 1 in 50,000 to 100,000 individuals worldwide. CSID is characterized by symptoms such as diarrhea, abdominal pain, and bloating, which can vary in severity. Diagnosis is typically made through genetic testing and evaluation of symptoms. While the prevalence of CSID is relatively low, early detection and management can significantly improve the quality of life for individuals with this condition.
Congenital Sucrase Isomaltase Deficiency (CSID) is a rare genetic disorder that affects the ability to digest certain sugars, leading to gastrointestinal symptoms. The prevalence of CSID varies among different populations and regions.
While exact figures may be challenging to determine due to underdiagnosis and limited data, studies suggest that CSID affects approximately 1 in 50,000 to 1 in 2,000 individuals worldwide. The condition is more commonly observed in individuals of European descent, with a higher prevalence reported in certain regions.
CSID is typically diagnosed in infancy or early childhood when symptoms such as chronic diarrhea, abdominal pain, bloating, and malnutrition become apparent. It is caused by mutations in the sucrase-isomaltase gene, which encodes the enzyme responsible for breaking down sucrose and starches in the small intestine.
Early diagnosis and management of CSID are crucial to alleviate symptoms and prevent complications. Treatment often involves dietary modifications, including the restriction of certain sugars and the use of enzyme replacement therapy to aid digestion.
It is important for individuals experiencing persistent gastrointestinal symptoms to consult with healthcare professionals for proper evaluation and potential diagnosis of CSID.