About Methylmalonic Acidemia

Methylmalonic Aciduria, Cblb Type, also known as methylmalonic aciduria cblb type, is related to methylmalonic aciduria and homocystinuria, cblc type and isolated methylmalonic acidemia, and has symptoms including lethargy, vomiting and respiratory distress. An important gene associated with Methylmalonic Aciduria, Cblb Type is MMAB (Metabolism Of Cobalamin Associated B), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include prostate, heart and breast, and related phenotypes are failure to thrive and global developmental delay

Major Symptoms of Methylmalonic Acidemia

Methylmalonic acidemia is an inherited metabolic disease. The main symptoms include:

1. Metabolic acidosis: Due to the inability to metabolize fatty acids normally, the acidity in the blood increases.

2. Nervous system problems: including mental retardation, schizophrenia, epilepsy, etc.

3. Skin problems: The skin is prone to irritation, eczema, psoriasis, etc.

4. Digestive system problems: including diarrhea, constipation, stomach problems, etc.

5. Cardiovascular diseases: such as cardiomyopathy, hypertension, etc.

6. Blood system problems: including anemia, thrombocytopenia, etc.

7. Immune system problems: including low immune function, autoimmune diseases, etc.

8. Others: Other symptoms such as joint disease and kidney disease may also occur.

Suitable Lifestyle for People with Methylmalonic Acidemia

Methylmalonic acidemia is an inherited metabolic disease in which the patient's body cannot metabolize Methylmalonyl-CoA properly, resulting in elevated levels of phenylalanine and methionine. People with this disease need to pay attention to their diet and lifestyle to help maintain good health. Here are some suggestions:

1. Diet modification: Avoid foods high in phenylalanine and methionine, such as protein-rich foods, liver, poultry, fish, nuts and peanuts. It is recommended to consume moderate amounts of foods low in phenylalanine and methionine, such as milk, beans, grains, fruits and vegetables, etc.

2. Increase the intake of vitamin B12: Methylmalonyl-CoA requires vitamin B12 to participate in metabolism, so patients need to increase the intake of vitamin B12. Food sources include animal livers, kidneys, hearts, fish, shellfish and dairy products.

3. Follow a low-calorie, low-fat diet: Elevated levels of Methylmalonyl-CoA can lead to increased fat storage, and patients need to pay attention to controlling dietary calories and fat intake.

4. Get enough sleep: Adequate sleep is very important for good health, especially for patients with Methylmalonyl-CoA. Patients should try to maintain a regular schedule and ensure adequate sleep time.

5. Reduce mental stress: Mental stress will cause a series of metabolic changes in the body, thereby affecting the metabolism of Methylmalonyl-CoA. Patients need to pay attention to reducing mental stress and maintaining a positive attitude.

6. Regular physical examinations: Patients need regular physical examinations to monitor disease progression and potential risks. In addition, based on the doctor's advice, patients may need to undergo treatments such as gene therapy. In short, patients with Methylmalonyl-CoA need to pay attention to adjustments in diet and lifestyle to help maintain good health. At the same time, patients should undergo regular physical examinations and follow the doctor's treatment recommendations.

Other Diseases

Combined Malonic and Methylmalonic Acidemia Isovaleric Acidemia CblC Type Methylmalonic Aciduria and Homocystinuria

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