Metabolic disorders mimicking Reye's syndrome
Journal
Journal of the Formosan Medical Association
Journal Volume
99
Journal Issue
4
Pages
295-299
Date Issued
2000
Author(s)
Abstract
Background: Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. Methods: From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. Results: The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. Conclusions: A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition.
SDGs
Other Subjects
3 hydroxy 3 methylglutaric acid; carnitine; fatty acid; fructose; methylmalonic acid; urea; article; carnitine deficiency; child; clinical article; clinical feature; female; glycogen storage disease type 1; hereditary fructose intolerance; human; infant; male; metabolic disorder; methylmalonic acidemia; neuropathology; newborn; pathogenesis; preschool child; Reye syndrome; Taiwan; urea cycle; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Liver; Male; Retrospective Studies; Reye Syndrome; Urea
Type
journal article