What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children - Inria - Institut national de recherche en sciences et technologies du numérique Access content directly
Journal Articles Molecular Genetics and Metabolism Year : 2022

What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children

Abstract

Objectives Reye Syndrome is an acute encephalopathy with increased liver enzymes and blood ammonia, without jaundice. The prevalence of an underlying inherited metabolic disorder (IMD) is unclear, nor the clinical or biological factors directing toward this diagnosis. Our aims were to define these clues in a large series of patients. Patients and methods We retrospectively studied all patients with Reye admitted in our institution from 1995. We defined 3 groups: Group 1 with a confirmed IMD, Group 2 considered as free of IMD, Group 3 unclassified. Statistical analysis compared patients in Groups 1 and 2, to find criteria for a diagnosis of IMD. Results Fifty-eight children were included; 41 (71%) had a confirmed IMD, 12 (20%) were free of IMD, and 5 remained unclassified. IMDs included Urea Cycle Disorders (51%), Fatty-Acid Oxidation Disorders (24%), ketogenesis defects (5%), other mitochondrial energy metabolism defects (10%), NBAS mutation (7%), Glycosylation Disorders (2%). In Group 2, the trigger was a viral infection, or a drug, deferasirox in three children. Univariate analysis showed that onset before 2 years-old, recurrent Reye and the association with rhabdomyolysis were significantly associated with IMD. Blood ammonia was a poor discriminating marker. All children were admitted into the intensive care unit, 23% needed continuous venovenous hemodialysis and one died from brain oedema. Conclusion Metabolic tests should be performed early in all cases of Reye, regardless of triggers. As they can be inconclusive, we suggest to systematically go to Next-Generation Sequencing study. These children should be transferred early to a specialized unit.

Dates and versions

hal-03941178 , version 1 (16-01-2023)

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Violette Goetz, David Dawei Yang, Florence Lacaille, Michele Pelosi, François Angoulvant, et al.. What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 children. Molecular Genetics and Metabolism, 2022, 135 (4), pp.320-326. ⟨10.1016/j.ymgme.2022.02.001⟩. ⟨hal-03941178⟩
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