Fatty Acid Oxidation DisordersNewborn ScreeningRUSP
Trifunctional Protein Deficiency
TFP
TFP deficiency affects long-chain fatty acid oxidation with clinical overlap including hypoglycemia, cardiomyopathy, and neuromuscular manifestations in severe cases. Management parallels other long-chain FAO disorders with fasting avoidance and tailored nutrition. It is very rare but screened because of preventable morbidity and mortality.
- Prevalence
- Very rare
- Inheritance
- Autosomal recessive
- Screened at Birth
- Yes
- On RUSP
- Yes (Recommended Uniform Screening Panel)
About This Data
This disorder is part of the Cureledger rare disease data corpus. We are building privacy-preserving natural history datasets and advocacy tools for rare disease communities. Data is maintained by clinical advisors and the patient community.