MCADD

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
A Fatty-acid Oxidation Disorder

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What is it?
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare hereditary disease that is caused by the lack of an enzyme required to convert fat to energy. People with MCADD cannot fast for very long.

Fasting is when the body begins to use its own fat to make energy for the body. Fasting begins after the body has used all the food that the person has eaten, then begins to use the body's own fat to make energy. When people with MCADD fast, they can experience a range of serious life threatening symptoms or even death. Persons with MCADD cannot use this fat to make energy, consequently, the body begins to fail and malfunction once the food the person has eaten runs out.

Inheritance and Frequency
The gene defect for MCADD is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene usually emerges when two carriers of the defective gene have children together and pass the gene to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with MCADD, a 50% chance the child will be a carrier of the defective gene, and a 25% chance that the child will not be a carrier nor have the disease.

MCADD occurs in approximately 1 in every 10,000 live births.

Signs & Symptoms
Some individuals affected by MCADD have recurrent episodes of metabolic acidosis and hypoglycemia, lethargy, and coma. Symptoms typically begin in infancy or early childhood. However, some affected individuals have no apparent symptoms at birth, but low blood sugar, seizures, brain damage, cardiac arrest and serious illness can occur very quickly in children who are not feeding well. As much as 25% of affected individuals die in their first crisis so it is imperative to know that a person has this disease so that crisis can be prevented. More than 50% of individuals with MCADD die from their first crisis if it occurs after the age of two.

Long Term Effects
If not detected and treated appropriately, MCADD can result in death. Untreated MCADD can lead to mental retardation and death. However, people with treated MCADD will lead normal, healthy lives. Early detection of this disorder allows crisis to be avoided, thus treated individuals have normal life expectancy.

Treatment
Treatment of MCADD usually consists of avoidance of fasting (by frequent meals) and use of IV glucose required when food cannot be tolerated (such as with a virus, cold, flu, or other common illness). Intake of medium- and long-chain fatty acids should be avoided. Supplemental carnitine is recommended for some affected children.

History
It is estimated that about one in 100 Sudden Infant Death Syndrome (SIDS) deaths is probably a result of undiagnosed MCADD.

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

FOD Family Support Group
2041 Tomahawk
Okemos, MI 48864
Contact Person: Deb Lee Gould
Phone: (517) 381-1940
Email: Write to Deb

James William Lazzaro Foundation
4493 Liberty Road
South Euclid, OH 44121
Contact Person: Jamie Lazzaro
Phone: (502) 254-2209
Email: Write to Jamie

United Mitochondrial Disease Foundation
P.O. Box 1151
Monroeville, PA 15146-1151
Phone: (412) 793-8077
Email: Write to UMD Foundation

MUMS - National Parent-to-Parent Network

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Revised 4/17/08