Molecular Diagnosis & Therapy

, Volume 11, Issue 6, pp 381–384

Newborn Screening for Adrenoleukodystrophy

Implications for Therapy
  • Gerald V. Raymond
  • Richard O. Jones
  • Ann B. Moser
Genetic Disorders

DOI: 10.1007/BF03256261

Cite this article as:
Raymond, G.V., Jones, R.O. & Moser, A.B. Mol Diag Ther (2007) 11: 381. doi:10.1007/BF03256261

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.

Copyright information

© Adis Data Information BV 2007

Authors and Affiliations

  • Gerald V. Raymond
    • 1
  • Richard O. Jones
    • 1
  • Ann B. Moser
    • 1
  1. 1.Kennedy Krieger InstituteBaltimoreUSA