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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, TFP Deficiency can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing. If this additional test still indicates that your baby may have TFP Deficiency, genetic testing will be needed.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with TFP Deficiency.
About TFP Deficiency
TFP Deficiency is a condition in which the body is unable to break down certain fats. People affected by TFP are not able to change some of the fats they eat into the energy their body needs. This causes a buildup of unused fatty acids in the body.
If untreated, TFP Deficiency can cause weak muscle tone, low blood sugar, liver and heart problems, breathing difficulties, coma, and death. There are three forms of TFP. Children with “childhood” and “mild” TFP can experience healthy development if treatment is begun early in life. Children with “early” TFP may benefit from treatment.
Frequency
TFP Deficiency is very rare. The exact number of individuals with TFP is unknown.
Condition Type
TFP Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
Mitochondrial Trifunctional Protein Deficiency, MTP Deficiency, TPA Deficiency, Trifunctional Enzyme Deficiency, Trifunctional Protein Deficiency, Type 2 Trifunctional Protein Deficiency