Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern
P. C. Rowe, D. Valle and S. W. Brusilow
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore.
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).
