About Hereditary folate malabsorption

What is Hereditary folate malabsorption?

Hereditary folate malabsorption is a rare genetic disorder that affects the body's ability to absorb folate, a type of B vitamin. People with this disorder are unable to absorb enough folate from their diet, leading to a deficiency of this important nutrient. Symptoms of hereditary folate malabsorption can include anemia, fatigue, poor growth, and neurological problems. Treatment typically involves taking a daily supplement of folic acid to make up for the lack of folate in the diet.

What are the symptoms of Hereditary folate malabsorption?

The symptoms of Hereditary folate malabsorption include:

-Growth failure
-Developmental delay
-Neurological problems
-Anemia
-Gastrointestinal problems such as diarrhea, abdominal pain, and bloating
-Fatigue
-Weight loss
-Poor appetite
-Mood changes
-Headaches
-Skin rashes

What are the causes of Hereditary folate malabsorption?

Hereditary folate malabsorption is caused by a genetic mutation in the SLC46A1 gene, which is responsible for the production of a protein called proton-coupled folate transporter (PCFT). This protein is responsible for transporting folate (vitamin B9) from the small intestine into the bloodstream. When the gene is mutated, the protein is not produced, resulting in an inability to absorb folate from food.

What are the treatments for Hereditary folate malabsorption?

1. Dietary changes: Increasing dietary intake of folate-rich foods such as leafy green vegetables, legumes, and citrus fruits can help to compensate for the malabsorption of folate.

2. Folate supplementation: Taking a daily supplement of folic acid can help to compensate for the malabsorption of folate.

3. Medications: Certain medications, such as methotrexate, can help to increase the absorption of folate in the body.

4. Intravenous folate: Intravenous folate can be administered to provide a direct source of folate to the body.

What are the risk factors for Hereditary folate malabsorption?

1. Family history of Hereditary folate malabsorption
2. Genetic mutations in the SLC46A1 gene
3. Certain medications, such as methotrexate, that interfere with folate absorption
4. Gastrointestinal disorders, such as celiac disease, Crohn’s disease, or inflammatory bowel disease
5. Certain medical conditions, such as liver disease or kidney disease
6. Malnutrition or poor nutrition
7. Alcoholism
8. Age (children and elderly are more likely to be affected)

Is there a cure/medications for Hereditary folate malabsorption?

Yes, there is a cure for Hereditary folate malabsorption. Treatment typically involves taking a daily supplement of folic acid, which is the synthetic form of folate. In some cases, a doctor may also prescribe medications such as methotrexate or sulfasalazine to help the body absorb more folate.