Multiple CoA Carboxylase Deficiency

Multiple CoA Carboxylase Deficiency (MCD)
An Organic Acid Disorder

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What is it?
Multiple Carboxylase Deficiency is a condition whereas an affected individual is deficient in biotin, part of the Vitamin B complex. Without proper treatment, this disorder can lead to seizures, developmental delay, eczema, and hearing loss. Problems can be prevented with biotin treatment.

Inheritance and Frequency
The gene defect for Multiple CoA Carboxylase 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.

Multiple CoA Carboxylase Deficiency occurs in approximately 1 in 87,000 live births in the United States.

Signs & Symptoms
Symptoms of Multiple CoA Carboxylase Deficiency include seizures, hypotonia, immune system impairment, skin rashes, hair loss, hearing loss and mental retardation.

Long Term Effects
Supplementation should be maintained through the lifetime of an affected individual.

Treatment
Treatment of Multiple CoA Carboxylase Deficiency is oral biotin supplementation. This supplementation should begin immediately upon diagnosis.

History

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

Multiple CoA Carboxylase Deficiency is detectable through tandem mass spectrometry (MS/MS) newborn screening (NBS). Studies show the disease should be detectable through NBS, and until recently no true cases had been detected.

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 Person: Kathy Stagni
Phone: (763) 559-1797
Email: Write to Kathy

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Revised 01/08/2007