Fatty Acid Oxidation DisordersNewborn ScreeningRUSP
Carnitine Palmitoyltransferase II Deficiency
CPT-II
CPT-II deficiency has infantile, childhood, and adult forms with muscle pain, rhabdomyolysis, or severe neonatal disease depending on variant severity. Avoidance of prolonged exercise, fasting, and cold stress reduces episodes in milder phenotypes. Newborn screening targets severe presentations for early intervention.
- Prevalence
- 1 in 750,000-1,000,000
- 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.