Trifunctional Protein Deficiency (TFP) - Diseases and Conditions Identified in Children

Trifunctional Protein Deficiency (TFP)


Trifunctional protein deficiency (TFP) is an inborn error of metabolism, an inherited condition in which the body is unable to break down certain fats properly. TFP deficiency is considered a fatty acid oxidation condition because people with TFP deficiency are unable to change some fats into the energy the body needs to function and too many unused fatty acids build up in the body. Symptoms can vary and may include poor feeding, low blood sugar (hypoglycemia), extreme tiredness/lethargy, breathing difficulties, irritability, muscle problems that can lead to kidney problems, nerve problems, liver problems, heart problems and/or other potential signs and symptoms. TFP deficiency can be a life-threatening condition. Illness or infections, physical over-exertion, and going too long without food for any reason are some examples of circumstances that could also trigger symptoms of TFP deficiency. Management includes the avoidance of prolonged fasting and often includes a special diet, medication/supplements, other special precautions and emergency recommendations. Support groups are available to help connect families living with TFP deficiency with others who have experience or expertise with this condition.

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. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.