title: Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.
abstract: OBJECTIVE
  To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder.
  
  
  METHODS
  Observational study.
  
  
  METHODS
  Three generations of an affected kindred.
  
  
  METHODS
  None.
  
  
  METHODS
  Neurological features suggestive of adrenoleukodystrophy or adrenomyeloneuropathy. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene.
  
  
  RESULTS
  Three adults presented with adrenomyeloneuropathy and two children with adrenoleukodystrophy. Circulating concentrations of long chain fatty acids were raised consistent with clinical features. A mutation in exon 6 of the adrenoleukodystrophy gene (P543L) was identified. This had not previously been identified but has subsequently been reported by other groups.
  
  
  CONCLUSIONS
  Adrenomyeloneuropathy should be considered in the differential diagnosis in male patients presenting with adrenal failure. Early diagnosis allows genetic counselling in such families and may become more important as treatment strategies evolve.
authors: Wrexham Academic Unit, Wales College of Medicine, Cardiff University, Wales, UK.
authors: Sagarika
authors: S
authors: Mukherjee
authors: Elizabeth
authors: E
authors: Newby
authors: John N
authors: JN
authors: Harvey