Symptoms:

The disease can cause seizures and stroke. Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse.

Symptoms include:

• Brain disease that gets worse (progressive encephalopathy)
• Dehydration
• Developmental delays
• Failure to thrive
• Lethargy
• Repeated yeast infections
• Seizures
• Vomiting

Signs and tests:

Testing for methylmalonic acidemia is often done as part of a newborn screening exam. The U.S. Department of Health and Human Services recommends screening for this condition at birth because early detection and treatment has been shown to be beneficial.

Tests that may be done to diagnose this condition include:

• Ammonia test
• Blood gases
• Complete blood count
• CT scan or MRI of the brain
• Electrolyte levels
• Genetic testing
• Methylmalonic acid blood test
• Plasma amino acid test

Treatment:

Treatment consists of cobalamin and carnitine supplements and a low-protein diet. The child's diet must be carefully controlled.

If supplements do not help, the doctor may also recommend a diet that avoids substances called isoleucine, threonine, methionine, and valine.

Liver or kidney tranplantation (or both) have been shown to help some patients. These transplants provide the body with new cells that help breakdown methylmalonic acid normally.

Expectations (prognosis):

Patient may not survive their first attack.

Complications:

• Coma
• Death
• Kidney failure

Calling your health care provider:

Seek immediate medical help if a child is having a seizure for the first time. See a pediatrician if your child has signs of failure-to-thrive or developmental delays.

Prevention:

A low-protein maintenance diet can help to reduce the number of acidemia attacks. Persons with this condition should avoid those who are sick.

Genetic counseling may be helpful for couples with a family history of this disorder who wish to have a baby.

Some places have expanded newborn screening done at birth, which includes screening for methylmalonic acidemia. You can ask your doctor if this was done on your child.