About Congenital Sucrase-Isomaltase Deficiency

What is Congenital Sucrase-Isomaltase Deficiency?

Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder that affects the body's ability to digest certain sugars. People with CSID lack the enzyme sucrase-isomaltase, which is needed to break down the sugars sucrose and isomaltose. This can lead to abdominal pain, bloating, diarrhea, and other digestive symptoms after eating foods containing these sugars. Treatment typically involves avoiding foods that contain sucrose and isomaltose, as well as taking enzyme supplements to help with digestion.

What are the symptoms of Congenital Sucrase-Isomaltase Deficiency?

The symptoms of Congenital Sucrase-Isomaltase Deficiency (CSID) vary from person to person, but can include:

- Abdominal pain

- Bloating

- Diarrhea

- Gas

- Nausea

- Vomiting

- Weight loss

- Malnutrition

- Poor growth

- Fatigue

- Dehydration

- Nutrient deficiencies

- Iron deficiency anemia

- Vitamin D deficiency

- Calcium deficiency

- Magnesium deficiency

What are the causes of Congenital Sucrase-Isomaltase Deficiency?

Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare inherited disorder caused by a mutation in the SI gene, which is responsible for producing the enzyme sucrase-isomaltase. This enzyme is necessary for the digestion of carbohydrates, specifically sucrose and maltose. Without this enzyme, the body is unable to break down these carbohydrates, leading to a variety of digestive symptoms. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

What are the treatments for Congenital Sucrase-Isomaltase Deficiency?

1. Dietary modifications: The primary treatment for Congenital Sucrase-Isomaltase Deficiency is to follow a diet that is low in sucrose and other disaccharides. This means avoiding foods that contain sucrose, such as table sugar, honey, and molasses. It also means avoiding foods that contain other disaccharides, such as maltose, isomaltose, and lactose.

2. Enzyme replacement therapy: Enzyme replacement therapy is a treatment option for people with Congenital Sucrase-Isomaltase Deficiency. This involves taking a supplement that contains the enzyme sucrase-isomaltase, which helps the body break down sucrose and other disaccharides.

3. Probiotics: Probiotics are beneficial bacteria that can help improve digestion and reduce symptoms of Cong

What are the risk factors for Congenital Sucrase-Isomaltase Deficiency?

1. Family history of the disorder
2. Genetic mutations in the SI gene
3. Premature birth
4. Low birth weight
5. Exposure to certain medications during pregnancy
6. Exposure to certain environmental toxins during pregnancy

Is there a cure/medications for Congenital Sucrase-Isomaltase Deficiency?

Yes, there is a medication available for Congenital Sucrase-Isomaltase Deficiency. The medication is called Sucraid and it is a liquid enzyme replacement therapy that helps to replace the missing enzyme in the body. It is available by prescription only and should be taken with meals and snacks. Additionally, dietary modifications may be necessary to help manage the symptoms of the condition.