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What is the prevalence of Congenital Sucrase Isomaltase Deficiency?

How many people does Congenital Sucrase Isomaltase Deficiency affect? Does it have the same prevalence in men and women? And in the different countries?

Prevalence of Congenital Sucrase Isomaltase Deficiency

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.


Diseasemaps
2 answers
CSID is very rare and there is not a lot of information out there

Posted Nov 15, 2021 by Tracey 3000

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Stories of Congenital Sucrase Isomaltase Deficiency

CONGENITAL SUCRASE ISOMALTASE DEFICIENCY STORIES
Congenital Sucrase Isomaltase Deficiency stories
Diagnosed at age 6 in Melbourne. No known family history of disease. No sucraid available in Australia so diet only to treat condition. Normal lactase enzyme but sucrase and maltase levels extremely low or non existent.  
Congenital Sucrase Isomaltase Deficiency stories
My son has CSID. Diagnosed at 5 years of age. It's been a long journey to get to this point.  As there is no access to sucraid in Australia, we are purely trying to manage by diet alone.  As a mother, I will always be a voice for my young son and...
Congenital Sucrase Isomaltase Deficiency stories
my name is Millie and I was diagnosed with SI at age 18 months as I didn't fall under the top four genetic mutations of CSID and it was too expensive to continue testing, but I follow the exact same diet and can't have sucrose or much starch. I have ...

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Congenital Sucrase Isomaltase Deficiency forum

CONGENITAL SUCRASE ISOMALTASE DEFICIENCY FORUM
Congenital Sucrase Isomaltase Deficiency forum
Hello, Just curious, do any of you struggle with UHT milk? I am fine with all other dairy but for some reason UHT is a no go for me. For the life of me I can't figure out why, there are no added sugars. I'm wondering if this is a 'CSID thin...

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