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Newborn Screening for Adrenoleukodystrophy

Implications for Therapy

Molecular Diagnosis & Therapy volume 11, pages 381–384 (2007)Cite this article

Abstract

X-Linked adrenoleukodystrophy (X-ALD) is a progressive metabolic condition affecting the adrenal glands and nervous system of males. Although variable in the age of onset and presentation in families, X-ALD does present in characteristic phenotypes including a devastating childhood form that affects 35% of boys with this genetic condition. The majority of males with X-ALD will also develop adrenal insufficiency, which may result in crisis. Early detection is desirable in order to prevent morbidity from this condition. We have recently developed a tandem mass spectroscopy method that allows this to be done during newborn screening for other genetic disorder. In this review, we discuss the rationale for early detection, its effect on treatment, and some of the uncertainties.

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Table I

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Acknowledgments

The authors wish to acknowledge the contribution of Dr Hugo W. Moser. Dr Moser conceived of this project and was instrumental in taking the initial steps of making it a reality. His death in January 2007 prevented him from seeing this project brought to completion.

The authors also wish to acknowledge the role of the United Leukodystrophy Foundation in providing funds for the initial steps. Additional grant support is presently pending and the authors note that they have a continued academic and scientific interest in newborn screening for adrenoleukodystrophy and other peroxisomal disorders.

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Affiliations

  1. Neurogenetics, Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD, 21205, USA

    Gerald V. Raymond, Richard O. Jones & Ann B. Moser

Authors
  1. Gerald V. Raymond
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  2. Richard O. Jones
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  3. Ann B. Moser
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Correspondence to Gerald V. Raymond.

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Raymond, G.V., Jones, R.O. & Moser, A.B. Newborn Screening for Adrenoleukodystrophy. Mol Diag Ther 11, 381–384 (2007). https://doi.org/10.1007/BF03256261

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  • DOI: https://doi.org/10.1007/BF03256261

Keywords

  • Hematopoietic Stem Cell Transplantation
  • Adrenal Insufficiency
  • Newborn Screening
  • Adrenoleukodystrophy
  • Adrenal Crisis