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Identification of 5‐hydroxyhexanoic acid in the urine of twin siblings with a Reye's‐like syndrome associated with dicarboxylic aciduria and hypoglycaemia and with similarities to Jamaican vomiting sickness
Author(s) -
Chalmers R. A.,
Lawson A. M.
Publication year - 1979
Publication title -
biomedical mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.475
H-Index - 121
eISSN - 1096-9888
pISSN - 0306-042X
DOI - 10.1002/bms.1200061008
Subject(s) - reye's syndrome , vomiting , urine , medicine , identification (biology) , pediatrics , endocrinology , gastroenterology , biology , botany
Twin male infant siblings who presented in Harrow, UK, with a Reye's‐like syndrome associated with profound hypoglycaemia, vomiting, diarrhoea, coma and death in one child, with dicarboxylic aciduria, and similarities to Jamaican vomiting sickness (hypoglycin toxicity) have been shown to excrete large amounts of a previously unrecorded urinary organic acid. This has been identified as 5‐hydroxyhexanoic acid by gas chromatography mass spectrometry using a synthesized standard. Concentrations observed were 340 and 330 mg g −1 creatinine in the two patients. The metabolic precursor of the urinary acid is suggested to be hex‐4‐enoic acid, a probable chemical toxin closely related to the active organic acid metabolite of hypoglycin. The possibility of ω – 1 oxidation of hexanoic acid to 5‐hydroxyhexanoic acid in these and other patients with dicarbocylic acidurias is also discussed.