Congenital sucrose isomaltose malabsorption

Congenital Sucrose-Isomaltose Malabsorption (CSIM) is a rare genetic disorder that affects an individual's ability to digest certain sugars properly. This condition is present from birth and is caused by a deficiency or absence of the enzyme sucrase-isomaltase, which is necessary for the digestion of sucrose (table sugar) and isomaltose (a component of starch).

Causes

CSIM is an inherited condition that follows an autosomal recessive pattern. This means that for a child to be affected, they must inherit one defective gene from each parent. The disorder is caused by mutations in the SI gene, which provides instructions for producing the sucrase-isomaltase enzyme.

Symptoms

Symptoms of CSIM typically begin in infancy when sucrose or isomaltose-containing foods are introduced into the diet. Common symptoms include:

• Diarrhea
• Abdominal pain
• Bloating
• Gas
• Failure to thrive or poor weight gain in infants

Diagnosis

Diagnosis of CSIM involves a combination of medical history, dietary review, and specific tests, including:

• Breath tests, which can detect hydrogen produced when undigested sucrose ferments in the colon
• Stool acidity test, since undigested sugar can cause acidic stool
• Genetic testing to identify mutations in the SI gene
• Biopsy of the small intestine to measure sucrase-isomaltase activity directly

Treatment

There is no cure for CSIM, but the condition can be managed through dietary modifications. Treatment typically involves:

• Avoiding foods containing sucrose and isomaltose
• Supplementing the diet with glucose or other sugars that can be easily digested
• In some cases, enzyme replacement therapy may be considered

Prognosis

With appropriate dietary management, individuals with CSIM can lead healthy lives without experiencing significant symptoms. It is important for patients and their families to work closely with healthcare providers, including dietitians, to manage the condition effectively.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Digestive system
• Enzyme deficiency

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