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Methylmalonic acidemia

  • 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