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Methylmalonic acidemia

• Overview
• Symptoms
• Treatment
• Prevention

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

References:

Arn PH. Newborn screening: current status. Health Affairs. 2007; 26:559-566.

Nagarajan S, Enns GM, Millan TM, Winter S, Sarwal MM. Management of methylmalonic acidaemia by combined liver-kidney transplantation. J Inherit Metab Dis. 2005; 28(4):517-24.

• Review Date: 4/26/2007
• Reviewed By: Robert Hurd, MD, Professor of Endocrinology, Department of Biology, Xavier University, Cincinnati, OH. Review provided by VeriMed Healthcare Network.

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