Fatty Acid Oxidation DisordersNewborn ScreeningRUSP
Carnitine Palmitoyltransferase I Deficiency
CPT-I
CPT-I deficiency limits transport of long-chain fatty acids into mitochondria for oxidation, predisposing to hypoketotic hypoglycemia under fasting stress. The hepatic form is the classic presentation described in screening contexts. Very rare cases benefit from metabolic clinic guidance and illness protocols.
- 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.