About Acidemia, Methylmalonic

What is Acidemia, Methylmalonic?

Acidemia, methylmalonic 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, these proteins and fats build up in the body and cause a variety of symptoms, including vomiting, poor feeding, lethargy, seizures, and coma. In severe cases, acidemia, methylmalonic can be fatal. Treatment typically involves a combination of dietary changes, vitamin supplements, and medications.

What are the symptoms of Acidemia, Methylmalonic?

The symptoms of methylmalonic acidemia (MMA) vary depending on the severity of the condition, but may include:

• Poor feeding
vomiting
• Lethargy
• Weakness
• Seizures
• Developmental delay
• Poor growth
• Abnormal movements
• Abnormal breathing
• Abnormal heart rate
• Abnormal blood pressure
• Abnormal blood sugar levels
• Abnormal electrolyte levels
• Abnormal liver function tests
• Abnormal kidney function tests
• Abnormal urine tests
• Abnormal blood clotting tests
• Abnormal blood clotting factors
• Abnormal red blood cell counts
• Abnormal white blood cell counts
• Abnormal cholesterol levels
• Abnormal triglyceride levels
• Abnormal amino acid levels
• Abnormal fatty acid levels

What are the causes of Acidemia, Methylmalonic?

Acidemia, Methylmalonic 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, these proteins and fats build up in the body and cause a variety of symptoms. The most common cause of Acidemia, Methylmalonic is a mutation in the MUT gene, which provides instructions for making the methylmalonyl-CoA mutase enzyme. Other causes include a deficiency of vitamin B12, which is needed for the enzyme to function properly, and a deficiency of adenosylcobalamin, a form of vitamin B12.

What are the treatments for Acidemia, Methylmalonic?

The treatment for acidemia, methylmalonic, depends on the underlying cause. Treatment may include dietary changes, medications, and/or supplements.

1. Dietary changes: A diet low in protein and high in carbohydrates may be recommended to reduce the amount of methylmalonic acid in the body.

2. Medications: Medications such as vitamin B12, folate, and carnitine may be prescribed to help reduce the amount of methylmalonic acid in the body.

3. Supplements: Supplements such as omega-3 fatty acids, magnesium, and probiotics may be recommended to help reduce the amount of methylmalonic acid in the body.

What are the risk factors for Acidemia, Methylmalonic?

The risk factors for acidemia, methylmalonic include:

1. Genetic mutations in the methylmalonyl-CoA mutase (MUT) gene.

2. Deficiency of vitamin B12.

3. Deficiency of other vitamins and minerals, such as folate, thiamine, and riboflavin.

4. Certain medications, such as anticonvulsants and antibiotics.

5. Certain metabolic disorders, such as homocystinuria and maple syrup urine disease.

6. Premature birth.

7. Low birth weight.

8. Exposure to certain toxins, such as lead and mercury.

Is there a cure/medications for Acidemia, Methylmalonic?

Yes, there are treatments available for methylmalonic acidemia (MMA). Treatment typically involves a combination of dietary modifications, vitamin supplements, and medications. Dietary modifications may include avoiding certain foods, such as those high in protein, and increasing the intake of certain vitamins and minerals. Vitamin supplements, such as B12, folate, and carnitine, may also be prescribed. Medications, such as sodium benzoate, may be used to reduce the levels of methylmalonic acid in the blood. Additionally, enzyme replacement therapy may be used in some cases.