Other Newborn ScreeningNewborn ScreeningRUSP
X-Linked Adrenoleukodystrophy
X-ALD
X-ALD is caused by ABCD1 mutations disrupting very long-chain fatty acid metabolism, with risk of adrenal insufficiency and cerebral demyelination in childhood or adrenomyeloneuropathy in adulthood. Family screening, adrenal monitoring, and transplant eligibility assessment rely on early diagnosis. Newborn screening identifies male infants for longitudinal multidisciplinary care.
- Prevalence
- Approximately 1 in 17,000 male births
- Inheritance
- X-linked
- 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.