Vitamin B12-unresponsive methylmalonic acidemia type mut- is a rare inherited disorder caused by a mutation in the MUT gene. It is characterized by an inability to process certain proteins and fats, resulting in an accumulation of methylmalonic acid in the body. Symptoms include poor growth, intellectual disability, seizures, and vision and hearing problems. Treatment typically involves a combination of dietary modifications, vitamin B12 supplementation, and medications.

The symptoms of Vitamin B12-unresponsive methylmalonic acidemia type mut- vary depending on the severity of the condition, but may include:

-Developmental delay
-Failure to thrive
-Seizures
-Vomiting
-Feeding difficulties
-Weakness
-Lethargy
-Irritability
-Poor muscle tone
-Growth retardation
-Hyperactivity
-Hypotonia
-Liver dysfunction
-Kidney dysfunction
-Cardiac abnormalities
-Hearing loss
-Vision problems
-Skin rashes
-Gastrointestinal problems
-Metabolic acidosis

1. Mutations in the MUT gene, which encodes the enzyme methylmalonyl-CoA mutase.

2. Deficiency of the cofactor adenosylcobalamin, which is required for the activity of methylmalonyl-CoA mutase.

3. Deficiency of the enzyme methylmalonyl-CoA epimerase, which is required for the conversion of methylmalonyl-CoA to succinyl-CoA.

4. Deficiency of the enzyme methylmalonyl-CoA racemase, which is required for the conversion of L-methylmalonyl-CoA to D-methylmalonyl-CoA.

5. Deficiency of the enzyme methylmalonyl-CoA decarboxylase, which is required for the

The treatments for Vitamin B12-unresponsive methylmalonic acidemia type mut- include dietary management, supplementation with carnitine, and enzyme replacement therapy. Dietary management involves reducing the intake of proteins and increasing the intake of carbohydrates. Supplementation with carnitine helps to reduce the accumulation of methylmalonic acid in the body. Enzyme replacement therapy involves the administration of recombinant methylmalonyl-CoA mutase, which helps to restore the activity of the enzyme.

1. Mutations in the MUT gene
2. Inheritance of two mutated copies of the MUT gene
3. Deficiency of vitamin B12
4. Deficiency of folate
5. Deficiency of cobalamin
6. Deficiency of adenosylcobalamin
7. Deficiency of methylcobalamin
8. Deficiency of methionine
9. Deficiency of choline
10. Deficiency of carnitine
11. Deficiency of biotin
12. Deficiency of thiamine
13. Deficiency of riboflavin
14. Deficiency of pantothenic acid
15. Deficiency of lipoic acid
16. Deficiency of zinc
17. Deficiency of copper
18. Deficiency of selenium
19. Deficiency of

There is no cure for Vitamin B12-unresponsive methylmalonic acidemia type mut-. However, there are medications that can help manage the symptoms. These include medications to reduce the amount of methylmalonic acid in the body, such as hydroxycobalamin, and medications to reduce the amount of homocysteine in the body, such as betaine. Additionally, dietary modifications may be recommended to reduce the amount of methylmalonic acid in the body.