Adrenoleukodystrophy in the era of newborn screening

Research output: Contribution to journalReview articlepeer-review

9 Scopus citations


Purpose of reviewAdrenoleukodystrophy (ALD) is a peroxisomal disorder with varying clinical presentations, including adrenal insufficiency, neurologic disease, and testicular dysfunction. The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment.Recent findingsNew York State initiated newborn screening for ALD on December 30, 2013. Successful ALD newborn screening has led to its addition on other state newborn screens and recommendations for universal screening. Initial incidence reports, based on newborn screening, suggest ALD may be more common than previously described. The Pediatric Endocrine Society has published guidance for monitoring newborn males with ALD and case reports suggest biochemical adrenal insufficiency can be present during early infancy. Allogeneic hematopoietic stem cell transplant and gene therapy have been effective at halting the progression of cerebral ALD.SummaryEarly diagnosis and monitoring for progression of ALD can prevent adrenal crisis and treat the cerebral form of the disease. Initial guidelines for surveillance are likely to evolve as newborn screening not only aids in early detection and therapeutic interventions for ALD, but also expands our knowledge of the natural history of ALD.

Original languageEnglish (US)
Pages (from-to)47-55
Number of pages9
JournalCurrent Opinion in Endocrinology, Diabetes and Obesity
Issue number1
StatePublished - Feb 1 2020


  • ABCD1
  • adrenal insufficiency
  • adrenoleukodystrophy
  • newborn screening
  • very long-chain fatty acids

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology
  • Nutrition and Dietetics


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