Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency

J. Bergoffen, P. Kaplan, D. E. Hale, M. J. Bennett, G. T. Berry

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

An infant with glycogen storage disease and prolonged malnourishment showed a urinary organic acid profile during an episode of fasting hypoglycaemia with inappropriate hypoketotic dicarboxylic aciduria that was indistinguishable from that reported in long-chain l-3-hydroxyacyl-CoA dehydrogenase deficiency. Although there was a striking elevation of urinary 3-hydroxydecanedioic acid, the ratios between hydroxydicarboxylic acids were consistent with values reported to be indicative of medium-chain acyl-CoA dehydrogenase deficiency. We suspect that the fasting 3-hydroxydicarboxylic aciduria was attributable to secondarily impaired enzyme activities, the consequence of malnutrition, early infancy, and/or glycogen storage disease. Caution is advised in the interpretation of urinary organic acid patterns that indicate a 3-hydroxydicarboxylic aciduria, as well as an inapprorpiate hypoketotic dicarboxylic aciduria, as they may represent non-specific findings.

Original languageEnglish (US)
Pages (from-to)851-856
Number of pages6
JournalJournal of Inherited Metabolic Disease
Volume16
Issue number5
DOIs
StatePublished - Sep 1 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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