Definition

What is Methylmalonic acidemia?

Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. The result is a buildup of a substance called methylmalonic acid in the blood.

How common is Methylmalonic acidemia?

Methylmalonic acidemia is extremely rare. It affects boys and girls equally. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Methylmalonic acidemia?

The common symptoms of Methylmalonic acidemia are:

  • Progressive encephalopathy
  • Severe dehydration
  • Developmental problems
  • Failure to thrive
  • Extreme lethargy
  • Repeated infections
  • Seizures
  • Vomiting

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Methylmalonic acidemia?

Methylmalonic acidemia is an autosomal recessive disorder, which means the defective gene must be passed onto the child from both parents.

Risk factors

What increases my risk for Methylmalonic acidemia?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Methylmalonic acidemia diagnosed?

Methylmalonic acidemia can be detected as a part of the screening of the newborn. Some of the tests that are done to diagnose Methylmalonic acidemia are:

  • Testing for ammonia
  • Testing blood gases
  • Cbc
  • Ct scan of brain
  • Mri of brain
  • Checking electrolytes
  • Genetic testing
  • Methylmalonic acid test.

How is Methylmalonic acidemia treated?

Generally cobalamin and carnitine supplements are given for Methylmalonic acidemia. The child is also given a low-protein diet. The child needs to avoid mild and poultry products, meat etc. which are rich in proteins.

Liver/kidney transplantation has shown to be beneficial in some instances as the transplantation provides new cells in the body which can help break down methylmalonic acid in a normal fashion.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Methylmalonic acidemia?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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