About Homocystinuria

Homocystinuria, also known as cystathionine beta synthase deficiency, is related to homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity and methylmalonic aciduria and homocystinuria, cblf type, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine Beta-Synthase), and among its related pathways/superpathways are Disease and Metabolism. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and kidney, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Major Symptoms of Homocystinuria

Homocystinuria is a rare genetic disorder characterized by the accumulation of homocysteine in the urine. Some of the major symptoms include frequent urination, proteinuria, and severe itching. The urine analysis may reveal the presence of protein, red blood cells, white blood cells, and elevated levels of homocysteine. Additionally, individuals with homocystinuria may experience joint pain, muscle weakness, and fatigue due to the buildup of homocysteine in the body.

Suitable Lifestyle for People with Homocystinuria

Homocystinuria is a rare genetic kidney disease in which patients lack normal creatine phosphorylase, causing creatine to accumulate in the body, causing a variety of symptoms, such as anemia, bone pain, kidney failure, etc. Therefore, patients need to pay special attention to lifestyle to mitigate disease progression and improve quality of life.

1. Diet: Patients should follow a low-creatine diet and reduce the intake of high-creatine foods such as meat and fish. At the same time, you should eat more foods rich in vitamins C, E, B family and minerals to help the body absorb nutrients.

2. Exercise: Patients should avoid high-intensity exercise to avoid causing kidney failure. It is recommended to engage in low-intensity aerobic exercise, such as walking, swimming, etc. , to maintain good health.

3. Control weight: Patients should maintain a healthy weight to reduce the burden on the kidneys. Avoid overeating and eat as little high-calorie food as possible.

4. Sleep: Patients should maintain adequate sleep to maintain good health. Try to fall asleep before 22:00 at night to ensure that the body gets adequate rest.

5. Avoid stimulation: Patients should avoid stimulation to avoid worsening of the disease. Such as avoiding infections, avoiding the use of certain drugs, etc. In short, for patients with Homocystinuria, lifestyle adjustments are of great significance for disease recovery and prevention of complications. Patients should follow the doctor's advice and actively cooperate with treatment to improve their quality of life.

Other Diseases

CblC Type Methylmalonic Aciduria and Homocystinuria

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