Premium
Marked elevation of urinary 3‐hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long‐chain l ‐3‐hydroxyacyl‐CoA dehydrogenase deficiency
Author(s) -
Bergoffen J.,
Kaplan P.,
Hale D. E.,
Bennett M. J.,
Berry G. T.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00714277
Subject(s) - endocrinology , medicine , urinary system , glycogen , glycogen storage disease , maple syrup urine disease , chemistry , biochemistry , amino acid , leucine
Summary 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.