Recurrent, familial Reye-like syndrome with a new complex amino and organic aciduria.
Five of 13 siblings from a Jewish-Ashkenazi family suffered from recurrent Reye-like episodes. During attacks, these patients excreted alpha-keto-adipic, alpha-hydroxy-adipic, and alpha-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 alpha-amino-adipic acid were elevated and carnitine was at the upper limit of the normal range. Serum acetoacetate level was 4-5 times the beta-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 beta-oxidation, dehydrogenase complexes of the pyruvic, alpha-ketoglutaric, alpha-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.
Elpeleg
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Metabolic Laboratory, Shaare-Zedek Hospital, Jerusalem, Israel.
Christensen
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Hurvitz
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Branski
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D000272:Adipates / Q000097:blood / Q000652:urine*; D000293:Adolescent; D000596:Amino Acids / Q000097:blood / Q000652:urine*; D005260:Female; D006801:Humans; D008239:Lysine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D012008:Recurrence; D012202:Reye Syndrome / Q000097:blood / Q000235:genetics* / Q000652:urine
D000272:Adipates; D000596:Amino Acids; D008239:Lysine; C100169:saccharopine