Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is an inherited disorder caused by a deficiency of the enzyme MTHFR. This enzyme is responsible for converting the vitamin folate into its active form, which is necessary for the body to use it. Without this enzyme, the body cannot properly process folate, leading to a buildup of homocysteine in the blood. This can lead to a variety of health problems, including developmental delays, skeletal abnormalities, and an increased risk of blood clots and stroke.

The symptoms of homocystinuria due to methylene tetrahydrofolate reductase deficiency can vary from person to person, but may include:

-Developmental delays
-Mental retardation
-Seizures
-Vision problems
-Skeletal abnormalities
-Abnormal blood clotting
-High levels of homocysteine in the blood
-Abnormalities in the urinary tract
-Heart problems
-Kidney problems
-Liver problems
-Pulmonary embolism

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is caused by mutations in the MTHFR gene. These mutations can be inherited from a parent or can occur spontaneously. The mutations cause a decrease in the activity of the MTHFR enzyme, which is responsible for converting the vitamin folate into its active form. This leads to a buildup of homocysteine in the body, which can cause a variety of health problems.

1. Dietary treatment: A low-methionine diet is recommended to reduce the amount of homocysteine in the body.

2. Vitamin supplementation: Folic acid, vitamin B6, and vitamin B12 are often prescribed to help reduce homocysteine levels.

3. Medication: Betaine, a derivative of choline, is sometimes prescribed to help reduce homocysteine levels.

4. Surgery: In some cases, surgery may be necessary to correct any structural abnormalities in the urinary tract.

5. Gene therapy: Gene therapy is being studied as a potential treatment for homocystinuria due to methylene tetrahydrofolate reductase deficiency.

1. Family history of homocystinuria
2. Genetic mutations in the MTHFR gene
3. Low levels of folate in the diet
4. Certain medications, such as anticonvulsants and methotrexate
5. Alcohol consumption
6. Smoking
7. Advanced age
8. Certain medical conditions, such as diabetes, obesity, and thyroid disorders

Yes, there is a cure for homocystinuria due to methylene tetrahydrofolate reductase deficiency. Treatment typically involves a combination of medications, dietary changes, and supplements. Medications used to treat homocystinuria include betaine, pyridoxine (vitamin B6), and cysteine. Dietary changes may include limiting methionine-rich foods, such as red meat, eggs, and dairy products. Supplements, such as folic acid, may also be recommended.