Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA epimerase. This enzyme is responsible for converting methylmalonyl-CoA to succinyl-CoA, which is an important step in the breakdown of certain proteins and fats. Without this enzyme, the body is unable to properly break down these proteins and fats, leading to a buildup of methylmalonic acid in the blood. Symptoms of this disorder can include vomiting, poor feeding, lethargy, developmental delays, and seizures. Treatment typically involves a combination of dietary modifications, vitamin B12 supplementation, and medications to reduce the levels of methylmalonic acid in the blood.

The symptoms of Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency can vary from mild to severe and can include:

-Poor feeding
-Vomiting
-Failure to thrive
-Developmental delay
-Seizures
-Lethargy
-Weakness
-Muscle wasting
-Hypoglycemia
-Hyperammonemia
-Acidosis
-Ketosis
-Hyperuricemia
-Hyperlipidemia
-Hepatomegaly
-Renal tubular acidosis
-Cardiomyopathy
-Hearing loss
-Cataracts
-Cognitive impairment

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is caused by mutations in the MCEE gene, which encodes the enzyme methylmalonyl-CoA epimerase. This enzyme is responsible for converting methylmalonyl-CoA to succinyl-CoA, which is an important step in the breakdown of certain amino acids and fatty acids. Mutations in the MCEE gene lead to a deficiency of the enzyme, resulting in an accumulation of methylmalonyl-CoA and an inability to properly break down certain amino acids and fatty acids. This can lead to a variety of symptoms, including developmental delays, intellectual disability, seizures, and metabolic acidosis.

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

2. Vitamin B12 supplementation: Vitamin B12 is essential for the conversion of methylmalonyl-CoA to succinyl-CoA.

3. Dialysis: Dialysis may be necessary to remove excess methylmalonic acid from the body.

4. Medications: Medications such as hydroxycobalamin, betaine, and carnitine may be prescribed to help reduce the amount of methylmalonyl-CoA produced.

5. Liver transplant: In some cases, a liver transplant may be necessary to replace the defective enzyme.

1. Genetic inheritance: Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is an autosomal recessive disorder, meaning that both parents must pass on a mutated gene in order for a child to be affected.

2. Ethnicity: This disorder is more common in certain ethnic groups, including Ashkenazi Jews, Italians, and Arabs.

3. Diet: A diet low in vitamin B12 can increase the risk of developing methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency.

Yes, there is a cure for methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency. The treatment involves a combination of dietary modifications, vitamin B12 supplementation, and medications. The medications used to treat this condition include hydroxycobalamin, betaine, and carnitine. Additionally, enzyme replacement therapy may be used in some cases.