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X-Linked Adrenoleukodystrophy - Newborn Screening And Lorenzo's Oil

 
  March, 8 2007 8:27
your information resource in human molecular genetics
 
     
Promising methods of screening for and treating X-linked adrenoleukodystrophy (X-ALD) are highlighted in a review article in Nature Clinical Practice Neurology. Hugo W. Moser and colleagues discuss recent clinical trial data indicating that Lorenzo's Oil - the discovery of which was the subject of the 1992 film of the same name - can delay the onset of X-ALD symptoms.

X-ALD is caused by a defect in the gene ABCD1 and affects approximately 1 in 20,000 males. Approximately 50 % of female carriers also develop symptoms. Moser, a leading authority on this inherited metabolic disorder until his death in January this year, argues that the timely use of assays for prenatal and carrier diagnosis is essential for genetic counselling and therapy. He also describes a method of newborn screening that was developed by his lab, which will have implications for X-ALD detection and treatment in the future.

The review will be accompanied online by a tribute to Moser's life and work by his colleague and co-author Gerald Raymond.

Author contact:
Gerald V. Raymond (Kennedy Krieger Institute, Baltimore, MD, USA)
Email:raymond@kennedykrieger.org

Abstract available online.

(C) Nature Clinical Practice Neurology.


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