Trifunctional Protein Deficiency

Trifunctional Protein Deficiency (TFP)
A Fatty-acid Oxidation Disorder

Trifunctional Protein Deficiency is also known as Mitochondrial Trifunctional Protein Deficiency (MTPA).

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What is it?
Trifunctional Protein Deficiency is a fatty-acid oxidation disorder that tends to mimic Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD).

Inheritance and Frequency
The gene defect for Trifunctional Protein 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
Infants may be lethargic, have hypoglycemia and hypotonia, and may experience feeding problems. Life-threatening complications may occur, affecting the heart and breathing.

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 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 8 AM to 8 PM EST daily: (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 JWL Foundation

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Revised 01/08/2007