MARKED ELEVATION OF URINARY 3-HYDROXYDECANEDIOIC ACID IN A MALNOURISHED INFANT WITH GLYCOGEN-STORAGE-DISEASE, MIMICKING LONG-CHAIN L-3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

An infant with glycogen storage disease and prolonged malnourishment s howed a urinary organic acid profile during an episode of fasting hypo glycaemia with inappropriate hypoketotic dicarboxylic aciduria that wa s indistinguishable from that reported in long-chain L-3-hydroxyacyl-C oA dehydrogenase deficiency. Although there was a striking elevation o f urinary 3-hydroxydecanedioic acid, the ratios between hydroxydicarbo xylic acids were consistent with values reported to be indicative of m edium-chain acyl-CoA dehydrogenase deficiency. We suspect that the fas ting 3-hydroxydicarboxylic aciduria was attributable to secondarily im paired enzyme activities, the consequence of malnutrition, early infan cy, and/or glycogen storage disease. Caution is advised in the interpr etation of urinary organic acid patterns that indicate a 3-hydroxydica rboxylic aciduria, as well as an inapprorpiate hypoketotic dicarboxyli c aciduria, as they may represent non-specific findings.