Congenital enterocyte heparan sulfate deficiency (CEHSD) is a rare genetic disorder that affects the body's ability to absorb nutrients from food. It is caused by a mutation in the gene that codes for the enzyme heparan sulfate 2-O-sulfotransferase (HS2ST). This enzyme is responsible for the production of heparan sulfate, a type of sugar molecule that helps the body absorb nutrients from food. People with CEHSD have a deficiency of this enzyme, which leads to malabsorption of nutrients and other digestive problems. Symptoms of CEHSD include failure to thrive, diarrhea, vomiting, and poor weight gain. Treatment typically involves dietary modifications and supplementation with vitamins and minerals.

The symptoms of Congenital enterocyte heparan sulfate deficiency can vary from person to person, but may include:

-Failure to thrive
-Diarrhea
-Malnutrition
-Vomiting
-Abdominal pain
-Dehydration
-Weight loss
-Liver dysfunction
-Growth retardation
-Delayed development
-Hypoglycemia
-Hypocalcemia
-Hypomagnesemia
-Hypophosphatemia
-Hypokalemia
-Hypoalbuminemia
-Hyponatremia
-Hyperammonemia
-Hyperbilirubinemia
-Elevated liver enzymes
-Elevated serum bile acids
-Elevated serum triglycerides
-Elevated serum cholesterol
-Elevated serum ur

Congenital enterocyte heparan sulfate deficiency is caused by mutations in the SLC35A3 gene. This gene provides instructions for making a protein that is involved in transporting heparan sulfate, a type of sugar molecule, into the cells that line the small intestine (enterocytes). Mutations in the SLC35A3 gene reduce or eliminate the production of this protein, which prevents heparan sulfate from entering the enterocytes. As a result, the enterocytes cannot properly absorb nutrients from food, leading to the signs and symptoms of congenital enterocyte heparan sulfate deficiency.

1. Dietary management: A low-fat, low-fiber diet is recommended to reduce the risk of malabsorption and diarrhea.

2. Nutritional supplementation: Oral supplementation with vitamins and minerals may be necessary to prevent deficiencies.

3. Medications: Antidiarrheal medications may be prescribed to reduce the frequency and severity of diarrhea.

4. Surgery: Surgery may be necessary to correct any structural abnormalities in the intestines.

5. Enzyme replacement therapy: Enzyme replacement therapy may be used to replace the missing enzyme in the body.

6. Probiotics: Probiotics may be used to help restore the balance of beneficial bacteria in the intestines.

1. Genetic mutation: Congenital enterocyte heparan sulfate deficiency is caused by a genetic mutation in the SLC35A3 gene.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing the condition.

3. Ethnicity: Congenital enterocyte heparan sulfate deficiency is more common in individuals of Ashkenazi Jewish descent.

4. Age: The disorder is more likely to occur in infants and young children.

At this time, there is no known cure or medications for Congenital enterocyte heparan sulfate deficiency. Treatment focuses on managing symptoms and preventing complications. This may include dietary modifications, nutritional supplements, and medications to treat associated conditions such as diarrhea and malabsorption.