Newborn screening for adrenoleukodystrophy: Implications for therapy

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

Research output: Contribution to journalReview articlepeer-review

24 Scopus citations

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 - 2007

Keywords

  • Adrenoleucodystrophy, diagnosis
  • Congenital disorders
  • Screening

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