Fatty Acid Oxidation DisordersNewborn ScreeningRUSP
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
MCADD
MCADD is the most common fatty acid oxidation disorder and impairs breakdown of medium-chain fats during fasting, risking hypoketotic hypoglycemia, seizures, and sudden death in undiagnosed infants. Avoidance of prolonged fasting and emergency glucose protocols during illness are cornerstones of care. Newborn screening has markedly reduced mortality.
- Prevalence
- 1 in 17,000
- 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.