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Methylmalonic acidemia - Symptom

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:

Reviewed last on: 5/12/2009
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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Methylmalonic acidemia - Symptom

Symptoms:

Signs and tests:

References

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