• Sagarika Mukherjee, Elizabeth Newby, and John N Harvey.
• Wrexham Academic Unit, Wales College of Medicine, Cardiff University, Wales, UK.
• J R Soc Med. 2006 May 1; 99 (5): 245-9.

ObjectiveTo review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder.DesignObservational study.ParticipantsThree generations of an affected kindred.InterventionNone.Main Outcome MeasuresNeurological features suggestive of adrenoleukodystrophy or adrenomyeloneuropathy. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene.ResultsThree 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.ConclusionsAdrenomyeloneuropathy 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.

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