3-Methylglutaconyl-CoA
Hydratase
Deficiency
An Organic Acid Disorder
What is it?
Inheritance and Frequency
The gene defect for 3-Methylglutaconyl-CoA Hydratase Deficiency is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only 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 For
Visit the "What Does Your State Screen For Page" to find out what your state screens for in its newborn screening test.
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 the screening for this to you no matter what state you live in. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.
3-Methylglutaconyl-CoA Hydratase Deficiency is theoretically detectable through tandem mass spectrometry (MS/MS) newborn screening (NBS). Studies show the disease should be detectable through NBS, but no true cases have yet been detected.
Other Sites of Reference
Support
Groups
Organic Acidemia Association
13210 35th Avenue
Plymouth, MN 55441
Contact Person: Kathy Stagni
Phone: (763) 559-1797
Email: OAANews@aol.com
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