| Autor: |
Bergoffen, J., Kaplan, P., Hale, D. E., Bennett, M. J., Berry, G. T. |
| Zdroj: |
Journal of Inherited Metabolic Disease; September 1993, Vol. 16 Issue: 5 p851-856, 6p |
| Abstrakt: |
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-chainl-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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
|
Full text from SpringerLink