Investigation of metabolic disorders resembling Reye's syndrome

Ten per cent of patients initially reported with Reye's syndrome in the British Isles (1981-91) were subsequently found to have an underlying inherited metabolic disorder (IMD). There was also evidence to suggest that other cases may not have been recognised. The range of metabolic disorders that mimic Reye's syndrome is wide and specialist, often complex, investigations are required to make a specific diagnosis. Those patients presenting with Reye's syndrome-like illness but also with one or more clinical features suggestive of an IMD require particular attention and detailed investigation. Recommendations for specimen collection and investigation are presented.