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Related Concept Videos

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Newborn Screening for X-Linked Adrenoleukodystrophy.

Ann B Moser1, Richard O Jones1, Walter C Hubbard2

  • 1Kennedy Krieger Institute, Baltimore, MD 21205, USA.

International Journal of Neonatal Screening
|August 31, 2019
PubMed
Summary
This summary is machine-generated.

Early diagnosis of X-linked adrenoleukodystrophy (X-ALD) through newborn screening is crucial for preventing severe health outcomes. Successful implementation in New York and other states paves the way for broader adoption of X-ALD newborn screening programs.

Keywords:
C26:0 lysophosphatidyl cholineX-linked adrenoleukodystrophyadrenal insufficiencydried blood spothematopoietic cell transplantationnewborn screeningperoxisomal disorderstandem mass spectrometry (LC-MS/MS)

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting males, potentially leading to adrenal insufficiency and neurological damage.
  • Early diagnosis is critical for timely intervention, particularly for the childhood cerebral form, to improve patient outcomes.
  • Hematopoietic cell transplantation is a key therapy for the cerebral form of X-ALD.

Purpose of the Study:

  • To describe X-linked adrenoleukodystrophy (X-ALD) and its current therapeutic landscape.
  • To detail the historical development and approval process for X-ALD newborn screening.
  • To report on the successful implementation and expansion of X-ALD newborn screening programs.

Main Methods:

  • Review of the history and development of X-ALD newborn screening tests.
  • Analysis of the approval process for inclusion in the Recommended Uniform Screening Panel (RUSP).
  • Case study of the implementation of X-ALD newborn screening in New York State and subsequent expansion.

Main Results:

  • X-ALD newborn screening was successfully implemented in New York starting December 30, 2013.
  • Follow-up guidelines have been established in New York to manage screened infants.
  • Early successes in New York, Connecticut, and California indicate a positive trajectory for broader X-ALD newborn screening adoption.

Conclusions:

  • Newborn screening for X-ALD is essential for early diagnosis and intervention.
  • The successful implementation in New York serves as a model for other states and countries.
  • Expansion of X-ALD newborn screening programs is anticipated, with international interest and legislative approvals in several US states.