Addison's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Addison's Disease, including details on chronic adrenal insufficiency, treatment, causes, medication.

X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.

Mahmood A, Dubey P, Moser HW, Moser A

Department of Neurology and Pediatrics, Neurogenetics Division, Johns Hopkins University, Kennedy Krieger Institute, Baltimore, MD 21205, USA.

X-linked adrenoleukodystrophy (X-ALD) in males can present with eight distinct phenotypes, which vary greatly in respect to phenotypic expression, age of onset and rate of progression and therapy. The plasma very long chain fatty acid assay permits precise diagnosis and is already abnormal at birth. The clinical features, molecular biology, pathogenesis, and therapeutic approaches, including the indications for Hematopoietic Stem Cell Transplants (HCT) and dietary therapy are discussed, with emphasis on the asymptomatic, childhood cerebral, and adrenomyeloneuropathy phenotypes. The rationale for neonatal screening and the profound effect that such screening would have on the therapy of X-ALD, including the role of HCT, are discussed.

Published 24 November 2005 in Pediatr Transplant, 9: 55-62.
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