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Updated: Nov 14, 2025

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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy

Christina G Tise1, Jose Andres Morales1, Ariel S Lee2

  • 1Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.

American Journal of Medical Genetics. Part A
|March 8, 2021
PubMed

Insights

Aicardi-Goutières syndrome (AGS) can be mistaken for X-linked adrenoleukodystrophy (X-ALD) in newborns. Early identification of AGS through newborn screening (NBS) is crucial for timely intervention and potential clinical trial enrollment.

Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Newborn screening (NBS) programs are vital for early detection of genetic disorders.
  • X-linked adrenoleukodystrophy (X-ALD) is screened for using elevated C26:0 lysophosphatidylcholine (C26:0-LPC).
  • Aicardi-Goutières syndrome (AGS) is a rare genetic disorder that can present with overlapping symptoms.

Keywords:
Aicardi-Goutières syndrome (AGS)C26:0 lysophosphatidylcholine (C26:0-LPC)X-linked adrenoleukodystrophy (X-ALD)newborn screen (NBS)very long chain fatty acids (VLCFA)

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