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>Twin Siblings with a Reye's-Like Syndrome Associated with an Abnormal Organic Aciduria, Hypoglycemia, Diarrhea, and Vomiting with Close Similarities to Jamaican Vomiting Sickness
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Twin Siblings with a Reye's-Like Syndrome Associated with an Abnormal Organic Aciduria, Hypoglycemia, Diarrhea, and Vomiting with Close Similarities to Jamaican Vomiting Sickness
Summary: Seventeen-month-old identical Caucasian male twins developed vomiting and diarrhea, and both were admitted to hospital 30 hr after the onset of symptoms. One was dead on arrival. Hepatic histology showed fatty degeneration affecting all parts of the lobule. Death was due to aspiration of gastric contents. Electron microscopic examination of the intestine showed the presence of replicating adenovirus. The other infant was comatose with undetectable blood glucose. He was maintained on IV glucose for 48 hr and made a complete recovery with no further hypoglycemia even after an overnight fast. Eighteen months later, he was a normally developed child for his age. The clinical diagnosis made in both infants was Reye's syndrome.Urinary organic acids were determined by gas chromatography and identified by gas chromatography-mass spectrometry. Greatly increased concentrations of adipic acid, 4-hydroxyphenylacetic acid, suberic acid, and of a previously unrecorded urinary organic acid which has been identified as 5-hydroxyhexanoic acid were observed. There were also increased concentrations of octanoic, sebacic, decenedioic, octenedioic, and 3-hydroxyisovaleric acids, and greatly reduced concentrations of the aldonic and deoxyaldonic acids and acids of the tricarboxylic acid cycle. Lactic acid excretion was not increased, and there was only a moderate increase in the concentrations of 3-hydroxybutyric and acetoacetic acids. No gross increase in concentrations or abnormal acids were observed in the urinary volatile short chain fatty acids.The organic acids observed in the urine of the present patients have been compared to those observed in patients with Jamaican vomiting sickness and those with Reye's syndrome. The similar dicarboxylic C6-C10 aciduria and profound hypoglycemia observed in the present patients and in those with Jamaican vomiting sickness is of interest and probably occurs due to a similar mechanism, inhibition of β-oxidation of medium-chain fatty acids by a chemical toxin. Some differences between the organic aciduria observed in these cases and in patients with Jamaican vomiting sickness suggest that the nature of the possible toxin, although closely similar, is not identical. The occurrence in both of the present patients of high concentrations of 5-hydroxyhexanoic acid may indicate the nature of the causative xenobiotic agent, and it has been suggested that this could be hex-4-enoic acid.Speculation: The occurrence of profound hypoglycemia and abnormal organic aciduria in twin English siblings with a Reye's-like syndrome and close clinical and biochemical similarities to Jamaican vomiting sickness suggests that some cases of Reye's syndrome in infants are due to causes similar to that involved in Jamaican vomiting sickness, that is, organic acid chemical toxins related to metabolites of hypoglycin.
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