About Hereditary Folate Malabsorption

Folate Malabsorption, Hereditary, also known as hereditary folate malabsorption, is related to megaloblastic anemia and deficiency anemia, and has symptoms including ataxia, athetosis and diarrhea. An important gene associated with Folate Malabsorption, Hereditary is SLC46A1 (Solute Carrier Family 46 Member 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include brain, skin and skeletal muscle, and related phenotypes are failure to thrive and nausea and vomiting

Major Symptoms of Hereditary Folate Malabsorption

The main symptoms of hereditary folate malabsorption include:

1. Constipation: This is the most common symptom. Patients will have difficulty defecating and need to use hands or instruments to help defecate.

2. Diarrhea: Patients may experience frequent diarrhea, often accompanied by severe malnutrition.

3. Nausea: Patients may experience nausea, especially while eating.

4. Vomiting: Patients may experience vomiting, especially while eating.

5. Feeling of fullness: Patients may experience a feeling of fullness, especially when eating.

6. Headache: Patients may experience headache, especially during headache.

7. Skin problems: Patients may develop skin problems such as skin itching, rashes and urticaria.

8. Oral problems: Patients may develop oral problems such as mouth ulcers and gingivitis.

9. Joint problems: Patients may develop joint problems such as joint pain and stiffness.

10. Psychiatric problems: Patients may develop mental problems such as depression and anxiety.

Suitable Lifestyle for People with Hereditary Folate Malabsorption

Hereditary folate malabsorption is a hereditary fat-soluble vitamin A deficiency, mainly characterized by malabsorptive anemia. People with the disease need to pay special attention to diet and lifestyle to help improve symptoms and prevent complications. Here are some suggestions:

1. Supplement with folic acid and vitamin A: Folic acid and vitamin A are key nutrients in the treatment of hereditary folate deficiency. Patients are recommended to take 400 micrograms of folic acid and 1,000 international units of vitamin A daily. These nutrients can be consumed through food or supplements.

2. Avoid foods high in fat and cholesterol: Foods high in fat and cholesterol may worsen hereditary folate deficiency. Patients should avoid eating high-fat foods such as fatty meats, lard, cream, butter, and fast food.

3. Eat more foods rich in folic acid and vitamin A: Patients should eat more foods rich in folic acid and vitamin A, such as green leafy vegetables, beans, nuts, seeds, animal liver, etc. In addition, foods rich in vitamin C should also be part of the diet, as vitamin C helps the body absorb folic acid and vitamin A.

4. Avoid drinking alcohol and smoking: Drinking alcohol and smoking may affect the body's absorption of folic acid and vitamin A, thereby aggravating hereditary folic acid deficiency. Patients should avoid drinking alcohol and smoking to maintain good health.

5. Maintain a healthy weight: Being overweight or obese may affect the body's absorption of folic acid and vitamin A, thereby exacerbating hereditary folate deficiency. Patients should maintain a healthy weight to improve symptoms and prevent complications.

6. Get regular health checkups: Patients should have regular health checkups to monitor disease progression and prevent complications. Your doctor may recommend blood tests, liver tests

Other Diseases

Neurodegeneration due to Cerebral Folate Transport Deficiency Hereditary Angioedema Hereditary Coproporphyria Hereditary Elliptocytosis Hereditary Hyperphenylalaninemia Hereditary Spherocytosis Hereditary Eye Disease Hereditary Pyropoikilocytosis Hereditary Xerocytosis Hereditary Ataxia

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