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Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern
P C Rowe1, D Valle, S W Brusilow
1Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore.
Insights
Reye's syndrome is now rarely diagnosed in children. Instead, patients presenting with Reye's-like symptoms are more likely to have treatable genetic metabolic disorders, such as fatty acid oxidation defects or ornithine transcarbamoylase deficiency.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Reye's syndrome was historically associated with viral illnesses and aspirin use in children.
- Genetic disorders were infrequently identified as a cause of Reye's syndrome in the past.
Observation:
- A two-year study evaluated four intensive care patients with Reye's syndrome.
- Standard metabolic investigations were performed on all patients.
- None of the four patients had a prior Reye's syndrome episode; three were previously healthy.
Findings:
- Two patients were diagnosed with enzymatic defects in fatty acid oxidation.
- Two patients had partial ornithine transcarbamoylase deficiencies.
- These findings indicate underlying inborn errors of metabolism.
Implications:
- The declining incidence of Reye's syndrome suggests a shift in diagnostic patterns.
- Patients with Reye's-like symptoms may more frequently have identifiable and manageable metabolic disorders.
- Early diagnosis of these genetic conditions is crucial for effective treatment and improved outcomes.
Abstract:
Genetic disorders were identified infrequently among children presenting with Reye's syndrome in the past. During a two-year period, we evaluated four consecutive patients referred for intensive care of Reye's syndrome. A standard investigation for inborn errors of metabolism revealed that two patients had enzymatic defects of fatty acid oxidation, and the other two had partial deficiencies of ornithine transcarbamoylase. None had experienced a previous episode of Reye's syndrome, and three of the four had been entirely healthy in the past. Our experience suggests that as the incidence of Reye's syndrome has decreased, patients with its clinical features are now more likely to have manageable inborn errors of metabolism (eg, disorders of ureagenesis, ketogenesis, and branched-chain amino acids).