Fatty Acid Oxidation DisordersNewborn ScreeningRUSP

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

VLCADD

VLCADD impairs mitochondrial beta-oxidation of long-chain fatty acids and can present with hypoglycemia, cardiomyopathy, or hepatic dysfunction in infancy. Long-term management includes structured feeding, medium-chain triglyceride strategies, and illness emergency plans. Screening identifies patients before metabolic or cardiac decompensation.

Prevalence
1 in 40,000-120,000
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.