Sucrase-isomaltase deficiency Save

Sucrase-Isomaltase Deficiency: Causes, Symptoms, and Diagnosis

Sucrase-Isomaltase Deficiency (SID) is a rare genetic condition that affects the digestive system's ability to break down and absorb sugars. This condition occurs when the body doesn't produce enough of two enzymes, sucrase and isomaltase, that help break down sugars. SID can lead to a range of digestive symptoms, including diarrhea, bloating, gas, and abdominal pain.

The primary cause of SID is a genetic mutation that affects the production of the sucrase and isomaltase enzymes. The condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. People with only one copy of the mutated gene are carriers but do not have the condition.

Symptoms of Sucrase-Isomaltase Deficiency

The symptoms of SID can vary from person to person and can range from mild to severe. Some common symptoms include:

1. Abdominal pain and cramping
2. Bloating and gas
3. Diarrhea
4. Nausea and vomiting
5. Weight loss and malnutrition (in severe cases)

The severity of symptoms can depend on a range of factors, including the age of onset, the amount and type of sugar consumed, and the individual's overall health.

Diagnosis of Sucrase-Isomaltase Deficiency

Diagnosis of SID typically involves a combination of medical history, physical exam, and specialized tests. Doctors may ask about symptoms and family history of digestive conditions. Blood tests can also be conducted to check for abnormal levels of digestive enzymes. In some cases, a biopsy of the small intestine may be necessary to confirm the diagnosis.

Overall, Sucrase-Isomaltase Deficiency is a rare genetic condition that affects the body's ability to break down and absorb sugars. If you or a loved one is experiencing digestive symptoms, it's important to speak with a healthcare provider to determine the underlying cause of the condition.