Vitamin B12-responsive methylmalonic acidemia (MMA) is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, the body cannot properly process these proteins and fats, leading to a buildup of methylmalonic acid in the blood. Symptoms of MMA can include poor growth, developmental delays, seizures, and anemia. Treatment typically involves supplementing with vitamin B12 and other medications to reduce the levels of methylmalonic acid in the blood.

The symptoms of Vitamin B12-responsive methylmalonic acidemia can vary depending on the severity of the condition, but may include:

- Poor feeding
- Vomiting
- Lethargy
- Weakness
- Developmental delay
- Seizures
- Abnormal movements
- Abnormal gait
- Abnormal posture
- Abnormal breathing
- Abnormal heart rate
- Abnormal blood pressure
- Abnormal blood sugar levels
- Abnormal liver function tests
- Abnormal kidney function tests
- Abnormal red blood cell count
- Abnormal white blood cell count
- Abnormal platelet count
- Abnormal cholesterol levels
- Abnormal triglyceride levels
- Abnormal urine acidity
- Abnormal urine amino acid levels
- Abnormal urine organic acid levels
- Abnormal urine

Vitamin B12-responsive methylmalonic acidemia is caused by a deficiency in the enzyme methylmalonyl-CoA mutase, which is responsible for breaking down certain proteins and fats. This deficiency can be caused by a genetic mutation, or it can be acquired through a lack of vitamin B12 in the diet.

1. Vitamin B12 supplementation: Vitamin B12 is the primary treatment for Vitamin B12-responsive methylmalonic acidemia. Vitamin B12 is usually given as an intramuscular injection, although oral supplementation is also available.

2. Dietary modifications: Dietary modifications may be necessary to reduce the amount of methylmalonic acid in the body. This may include avoiding certain foods that are high in methylmalonic acid, such as dairy products, eggs, and certain meats.

3. Medications: Certain medications may be prescribed to help reduce the amount of methylmalonic acid in the body. These medications may include cobalamin analogues, such as hydroxocobalamin, and other medications that help reduce the amount of methylmalonic acid in the body.

4. Liver transplant: In some cases, a liver transplant may

1. Genetic mutations in the MUT, MMAA, or MMAB genes
2. Inheritance of two mutated copies of the MUT, MMAA, or MMAB genes
3. Low dietary intake of vitamin B12
4. Impaired absorption of vitamin B12
5. Certain medications, such as anticonvulsants, proton pump inhibitors, and metformin
6. Gastrointestinal disorders, such as Crohn’s disease, celiac disease, and gastric bypass surgery
7. Autoimmune disorders, such as pernicious anemia
8. Kidney disease
9. Liver disease
10. Alcoholism

Yes, there is a cure for Vitamin B12-responsive methylmalonic acidemia. Treatment typically involves a combination of dietary modifications, vitamin B12 supplementation, and medications. Dietary modifications may include avoiding certain foods that are high in protein, such as red meat, eggs, and dairy products. Vitamin B12 supplementation is also important to help the body absorb and use the vitamin. Medications such as betaine, carnitine, and biotin may also be prescribed to help reduce the levels of methylmalonic acid in the body.