Fatty Acid Oxidation DisordersNewborn ScreeningRUSP
Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
LCHADD
LCHADD is part of the mitochondrial trifunctional protein pathway and causes hypoketotic hypoglycemia, peripheral neuropathy, and retinopathy in some patients. Dietary fat modification, avoidance of fasting, and specialized follow-up are required. Early detection through screening improves outcomes before irreversible complications.
- Prevalence
- 1 in 250,000
- 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.