Methylmalonic Aciduria

Methylmalonic Acidemia (MUT)
An Organic Acid Disorder

Methylmalonic Acidemia (MUT) is also known as Methylmalonic CoA Mutase Deficiency.

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What is it?
There are two variations of Methylmalonic Acidemia detectable through newborn screening - mut- and mut+. This condition is caused by an enzymatic defect in the oxidation of amino acids.

Inheritance and Frequency
The gene defect for Methylmalonic Acidemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

Methylmalonic Acidemia occurs in approximately one in 50,000 to 100,000 live births.

Signs & Symptoms
Symptoms of Methylmalonic Acidemia usually begin in the first few months of life and include lethargy, failure to thrive, vomiting, dehydration, respiratory distress, hypotonia, and hepatomegaly. Acute episodes may include drowsiness, coma, and seizures, with subsequent developmental delays.

Long Term Effects

Treatment
Treatment of Methylmalonic Acidemia includes a carefully controlled diet, including a low-protein regimen and/or restriction of isoleucine, valine, and threonine. Medical food supplementation may be needed. Carnitine supplement may also be recommended for some affected indivuduals.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact: Kathy Stagni
Phone: (763) 559-1797
Email: Write to Kathy

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Revised 01/07/2007