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 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 indicate 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 inappropriate hypoketotic dicarboxylic aciduria, as they may represent non-specific findings.
Bergoffen
J
J
Division of Human Genetics, Children's Hospital of Philadelphia, PA 19104.
Kaplan
P
P
Hale
D E
DE
Bennett
M J
MJ
Berry
G T
GT
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D003937:Diagnosis, Differential; D003998:Dicarboxylic Acids / Q000652:urine*; D005227:Fatty Acids / Q000652:urine; D006008:Glycogen Storage Disease / Q000652:urine*; D006801:Humans; D007223:Infant; D008297:Male; D009748:Nutrition Disorders / Q000652:urine*
D003998:Dicarboxylic Acids; D005227:Fatty Acids; C024036:3-hydroxydecanedioic acid; D015094:3-Hydroxyacyl CoA Dehydrogenases