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European Journal of Pediatrics

, Volume 149, Issue 10, pp 709–712 | Cite as

Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria

  • O. N. Elpeleg
  • E. Christensen
  • H. Hurvitz
  • D. Branski
Metabolic Diseases

Abstract

Five of 13 siblings from a Jewish-Ashkenazi family suffered from recurrent Reye-like episodes. During attacks, these patients excreted α-keto-adipic, α-hydroxy-adipic, and α-aminoadipic acids, branched-chain keto acids and saccharopine in addition, to lactic, pyruvic, and dicarboxylic acids characteristic of Reye syndrome. The serum concentrations of citrulline and α-aminoadipic acid were elevated and carnitine was at the upper limit of the normal range. Serum acetoacetate level was 4–5 times the β-hydroxybutyrate level, but the pyruvate/lactate ratio was normal. Notably, plasma ketone bodies were lower than expected from the degree of catabolism. When the patients were symptom-free, no abnormal amino or organic acids in serum or urine were detected. These findings might be interpreted as a functional impairment at three different biochemical sites: fatty acid β-oxidation, dehydrogenase complexes of the pyruvic, α-ketoglutaric, α-ketoadipic, and branched-chain keto acids, and pyruvate carboxylase. We suggest that in this hereditary disorder a toxic substance, exogenously or endogenously derived, interfered at multiple sites in different metabolic pathways.

Key words

Reye-like syndrome Organic acids Amino acids 

Abbreviations

A/B ratio

acetoacetate/3-hydroxybutyrate ratio

RS

Reye syndrome

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • O. N. Elpeleg
    • 1
  • E. Christensen
    • 2
  • H. Hurvitz
    • 3
  • D. Branski
    • 3
  1. 1.Metabolic LaboratoryShaare-Zedek HospitalJerusalemIsrael
  2. 2.The Section of Clinical Genetics, Metabolic LaboratoryRigshospitaletCopenhagenDenmark
  3. 3.Department of PaediatricsBikur-Cholim HospitalJerusalemIsrael

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