- Metabolite
- HMDB0000606 (D-2-Hydroxyglutaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 427 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Female
- Condition
- D2-/L2-hydroxyglutaric aciduria
References
- Muhlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R: Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment. J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1. [PubMed:24687295 ]