MTHFR-deficient homocystinuria

MTHFR-deficient homocystinuria is a rare metabolic disease. Due to the mutation of the MTHFR gene, the body cannot metabolize homocystine normally, which may cause serious complications such as cardiovascular disease and nervous system abnormalities. Timely diagnosis and comprehensive management measures including drug treatment, dietary adjustment and regular monitoring are the key to controlling the disease.

1. Analysis of the causes of the disease

MTHFR methylenetetrahydrofolate reductase is an important enzyme responsible for metabolizing folic acid into a biologically active form. Its deficiency is mostly caused by genetic mutations. Patients usually carry functional variations of the MTHFR gene, such as C677T mutation and A1298C mutation. Abnormal MTHFR function can lead to the obstruction of homocysteine ​​metabolism, resulting in elevated homocysteine ​​levels in the body.

Environmental factors can also affect disease manifestations. For example, insufficient intake of folic acid, vitamin B6, and vitamin B12 may further aggravate symptoms. Metabolic problems such as other inborn errors of metabolism can amplify this effect. This disease is often associated with premature cardiovascular disease, increased risk of stroke, and even mental retardation.

2 Treatment Strategies: Medication and Supplements

To lower homocysteine ​​levels, doctors usually use a multi-pronged approach of medical intervention:

Folic acid supplements: For example, taking active folic acid 5-MTHF or ordinary folic acid can promote homocysteine ​​metabolism. The usual dose is 5-15 mg per day.

Vitamin B6 Pyridoxine Hydrochloride: Helps the enzyme system optimize metabolism, usually taken 50-200 mg per day.

Vitamin B12 cyanocobalamin injection or tablets: To maintain normal methylation process, it can be supplemented by intramuscular injection or oral administration.

3. Diet and Lifestyle Adjustments

Control dietary methionine intake: High-methionine foods, such as red meat and egg yolks, need to be consumed in moderation to reduce the accumulation of homocysteine.

Increase your intake of foods rich in folate: dark leafy greens such as spinach and kale, citrus fruits such as oranges and lemons, and whole grains.

Balanced protein sources: Replace part of animal protein intake with plant protein such as beans and nuts.

Moderate exercise and avoiding smoking and drinking can significantly improve cardiovascular status and reduce the risk of disease.

4Regular monitoring and disease management

In order to evaluate the treatment effect, patients need to regularly check homocysteine ​​levels and test related nutritional indicators such as folic acid, vitamin B6, and B12 concentrations. Early diagnosis and monitoring of cardiovascular and nervous system functional manifestations are particularly important for preventing possible complications.

Although MTHFR-deficient homocystinuria is rare, it can be detected early through genetic testing and laboratory diagnosis. A comprehensive management approach with drug therapy as the core and dietary adjustment as the auxiliary is required for this disease, which is expected to effectively control homocystine levels and significantly reduce the risk of complications. Patients are advised to adhere to long-term monitoring and treatment under the guidance of a doctor to ensure a higher quality of life and health prognosis.