Which inborn errors of metabolism are associated with Reye syndrome?

Updated: Apr 02, 2018
  • Author: Debra L Weiner, MD, PhD; Chief Editor: Kirsten A Bechtel, MD  more...
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Answer

IEMs that produce Reye-like syndromes include fatty-acid oxidation defects, particularly medium-chain acyl dehydrogenase (MCAD) and long-chain acyl dehydrogenase deficiency (LCAD) inherited and acquired forms, urea-cycle defects, amino and organic acidopathies, primary carnitine deficiency, and disorders of carbohydrate metabolism. Undoubtedly, other IEMs that cause Reye-like syndrome will be identified.

The percentage of patients with a previous diagnosis of Reye syndrome is 0.4%. The percentage of patients who have a sibling with a Reye syndrome history is 2.9%. It is likely that at least of some of these patients had an IEM rather than Reye syndrome.

IEMs may account for the heterogeneity of disease manifestations in patients younger than 5 years who have received a diagnosis of Reye syndrome, especially those younger than 1 year. The possibility that IEMs are more likely than true Reye syndrome in patients younger than 5 years may also explain why decreases in salicylate use and decreases in the incidence of Reye syndrome have been greatest in patients older than 5 years.

IEM is suggested by recurrence of symptoms, precipitating factors, including prolonged fasting, changes in diet, decompensation out of proportion to intercurrent illnesses, failure to thrive, neurologic abnormalities, neurologic dysfunction, and family members with similar symptoms and/or unexplained infant deaths.


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