Vitamin B12-unresponsive methylmalonic acidemia type mut0 is a rare, inherited metabolic 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-unresponsive methylmalonic acidemia type mut0 vary from person to person, but may include:

-Developmental delay
-Failure to thrive
-Seizures
-Lethargy
-Vomiting
-Feeding difficulties
-Weakness
-Muscle wasting
-Growth retardation
-Hyperammonemia
-Hypoglycemia
-Hyperuricemia
-Hyperlipidemia
-Hepatomegaly
-Cardiomyopathy
-Renal tubular acidosis
-Hearing loss
-Visual impairment
-Cognitive impairment
-Behavioral problems
-Hypotonia
-Gastrointestinal problems
-Skin rashes

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is caused by a mutation in the MUT gene. This gene is responsible for producing an enzyme called methylmalonyl-CoA mutase, which is essential for breaking down certain proteins and fats. Without this enzyme, the body is unable to properly process these proteins and fats, leading to a buildup of methylmalonic acid in the blood. This can cause a variety of symptoms, including developmental delays, seizures, and vision problems.

1. Dietary management: A low-protein diet supplemented with essential amino acids is recommended to reduce the amount of methylmalonic acid produced.

2. Medication: Medications such as cobalamin, folinic acid, and betaine may be prescribed to help reduce methylmalonic acid levels.

3. Enzyme replacement therapy: This involves replacing the missing enzyme with a synthetic version.

4. Hematopoietic stem cell transplantation: This is a more aggressive treatment option that involves replacing the defective stem cells with healthy ones.

5. Gene therapy: This involves introducing a healthy gene into the patient’s cells to replace the defective one.

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 mut0. 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.