Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)
A Fatty-acid Oxidation Disorder

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What is it?
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) is a condition in which the body cannot oxidize fatty acids because an enzyme is either missing or not functioning correctly.

Inheritance and Frequency
The gene defect for LCHADD 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
Typical symptoms of LCHADD are hypoglycemia, lethargy, failure to thrive, and developmental delay, often accompanied by hypotonia and cardiomyopathy.

Long Term Effects
Early identification and treatment can prevent life-threatening episodes.

Treatment
Fasting should be avoided and a high-carbohydrate diet followed.

History
Some Sudden Infant Death Syndrome (SIDS) events are likely caused by LCHAD.

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 the state of your 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, 8 AM to 8 PM EST, daily: (517) 381-1940
Contact: Email Deb

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

United Mitochondrial Disease Foundation
P.O. Box 1151
Monroeville, PA 15146-1151o@umdf.org
Phone: (412) 793-8077
Contact: Email UMD Foundation

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Revised 01/08/2007