Trifunctional+protein+deficiency

Trifunctional Protein Deficiency

TPF or Trifunctional Protein Deficiency is one type of [|Fatty Acid Oxidation Disorder]. The food we eat is used as energy by our body, there are chemicals in our bodies that are used as enzymes. These enzymes break down the fat in the food and fat stored in our body and turn in into energy. Trifunctional Protein is a type of enzyme that helps with this process. If this enzyme is missing is is called Trifunctional Protein Deficiency or if it is not working the way it should be.



Why is Trifunctional Protein Deficiency screening done on newborns? TFP deficiency is tested on newborns immediately so the doctors can diagnose and treat the babies as soon as possible so that they will have a chance at normal growth and development. If the TFP deficiency is not detected immediately infants have a greater chance of not surviving after birth.

How is TPF deficiency tested? Testing can be done using a blood sample. DNA testing is used to look for changes in the pair of genes that cause TPF deficiency. TPF deficiency can also be confirmed by special enzyme tests which are taken by obtaining a skin or muscle sample.

Are the results reliable? If the results test positive it doesn't necessarily mean that the baby has TFP deficiency. Newborn screening tests the level of compounds called long chain acylcarnitines in the infants blood. To determine if the baby has TFP deficiency or not additional tests will be needed.

What are the signs and symptoms? There are 3 forms of TFP deficiency, early, childhood, and mild. Babies with early TFP deficiency can show signs of symptoms anywhere between birth and two years of age. (http://www.newbornscreening.info/Parents/fattyaciddisorders/TFP.html#3)Examples Include; -Weaknesses of the muscles -Learning delays in walking -Extreme sleepiness -Loss of appetite

Childhood symptoms can cause episodes of metabolic crisis, learning problems and mental retardation and muscle weakness.

Mild symptoms include, and has been reported in only a small amount of people. Symptoms can start from age two to adulthood, episodes of muscle weakness, during illness, going without eating for a prolonged period of time, breathing problems. muscle aches, cramps are also common.





-[|Montana's Newborn Screening]-

Bibliography:

Trifunctional Protein Deficiency.Fatty Acid Oxidation Disorders. 19 April 2011. Expanded Newborn Screening using Tandem mass Spectrometry, financial, ethical. legal and social issues. 7 June 2011. <[|__http://www.newbornscreening.info__]/

Parents/fattyaciddisorders/TFP.html#3.> Trifunctional Protein Deficiency Information for Parents. 28 October 2008. 7 June 2011. <[|__http://www.kdheks.gov/newborn_screening/download/parent_info/TFP_Info_for_Parents.pdf__].>