2 Methylbutyrylcoadehydrogenase

2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
An Organic Acid Disorder

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What is it?

Inheritance
The gene defect for 2-Methylbutyryl-CoA Dehydrogenase Deficiency 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.

Signs & Symptoms

Long Term Effects

Treatment

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 to you no matter your state of residence. For more information about supplemental newborn screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

OMIM 2-Methylbutyryl-CoA Dehydrogenase Deficiency

Support Groups

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

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Revised 01/08/2007