Newborn screening for adrenoleukodystrophy: Implications for therapy

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

Research output: Contribution to journalReview article

22 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)381-384
Number of pages4
JournalMolecular Diagnosis and Therapy
Volume11
Issue number6
DOIs
StatePublished - Jan 1 2007

Fingerprint

Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Inborn Genetic Diseases
Adrenal Glands
Age of Onset
Nervous System
Uncertainty
Mass Spectrometry
Therapeutics
Morbidity
Phenotype

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Genetics
  • Pharmacology

Cite this

Raymond, Gerald ; Jones, Richard O. ; Moser, Ann B. / Newborn screening for adrenoleukodystrophy : Implications for therapy. In: Molecular Diagnosis and Therapy. 2007 ; Vol. 11, No. 6. pp. 381-384.
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Newborn screening for adrenoleukodystrophy : Implications for therapy. / Raymond, Gerald; Jones, Richard O.; Moser, Ann B.

In: Molecular Diagnosis and Therapy, Vol. 11, No. 6, 01.01.2007, p. 381-384.

Research output: Contribution to journalReview article

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