Vitamin B12-responsive methylmalonic acidemia, type cblDv2 is a rare 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 this disorder can include poor growth, developmental delays, seizures, and intellectual disability. Treatment typically involves a combination of dietary changes, vitamin B12 supplementation, and medications.

The symptoms of Vitamin B12-responsive methylmalonic acidemia, type cblDv2, can vary from person to person, but may include:

- Poor feeding
- Vomiting
- Lethargy
- Weakness
- Developmental delay
- Seizures
- Irritability
- Poor growth
- Hypotonia
- Hyperactivity
- Abnormal movements
- Abnormal gait
- Abnormal eye movements
- Abnormal breathing
- Abnormal heart rate
- Abnormal blood pressure
- Abnormal liver function tests
- Abnormal kidney function tests
- Abnormal blood sugar levels
- Abnormal cholesterol levels
- Abnormal red blood cell count
- Abnormal white blood cell count
- Abnormal platelet count
- Abnormal electrolyte levels
- Abnormal

Vitamin B12-responsive methylmalonic acidemia, type cblDv2 is caused by mutations in the MMACHC gene. This gene provides instructions for making an enzyme called methylmalonyl-CoA mutase. This enzyme is involved in the breakdown of certain proteins and fats. Mutations in the MMACHC gene reduce or eliminate the activity of this enzyme, leading to a buildup of methylmalonic acid in the body. This buildup can cause a variety of symptoms, including developmental delays, seizures, and vision problems.

1. Vitamin B12 supplementation: Vitamin B12 supplementation is the mainstay of treatment for cblDv2. This should be given in the form of intramuscular injections of hydroxocobalamin or cyanocobalamin.

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

3. Folic acid supplementation: Folic acid supplementation may be necessary to reduce the amount of methylmalonic acid in the body.

4. Antioxidant therapy: Antioxidant therapy may be beneficial in reducing oxidative stress and improving methylmalonic acid levels.

5. Enzyme replacement therapy: Enzyme replacement therapy may be necessary in some cases to replace

1. Genetic mutation in the MMACHC gene
2. Deficiency of vitamin B12
3. Deficiency of folate
4. Low levels of cobalamin
5. Low levels of methionine
6. Low levels of adenosylcobalamin
7. Low levels of methylmalonyl-CoA mutase
8. Low levels of homocysteine
9. Low levels of cystathionine
10. Low levels of betaine
11. Low levels of choline
12. Low levels of carnitine
13. Low levels of taurine
14. Low levels of glutathione
15. Low levels of selenium
16. Low levels of zinc
17. Low levels of magnesium
18. Low levels of iron
19. Low levels of copper

Yes, there is a cure for Vitamin B12-responsive methylmalonic acidemia, type cblDv2. Treatment typically involves a combination of dietary modifications, vitamin B12 supplementation, and medications such as betaine, folinic acid, and carnitine. In some cases, a bone marrow transplant may be recommended.