Trifunctional Protein Deficiency (TFP)

 

Trifunctional protein deficiency (TFP) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by TFP are unable to change some of the fats they eat into energy the body needs to function. Too many unused fatty acids build up in the body. Signs and symptoms of this condition that may occur during infancy include feeding difficulties, lack of energy, weak muscle tone, and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Detecting TFP early and beginning treatment can often prevent some of the severe outcomes of TFP.

This condition is also known as: mitochondrial trifunctional protein deficiency, MTP deficiency, TFP deficiency,TPA deficiency, type 2 trifunctional protein deficiency, trifunctional enzyme deficiency.

For more information about Trifunctional protein deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Trifunctional protein deficiency and Baby's First Test: Trifunctional protein deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.