- Metabolite
- HMDB0000595 (Hydrogen carbonate)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 18900 +/- 2500 uM
- Age
- Adolescent (13-18 years old)
- Sex
- Both
- Condition
- Leigh Syndrome, French Canadian Type
References
- Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA: LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. J Med Genet. 2011 Mar;48(3):183-9. doi: 10.1136/jmg.2010.081976. Epub 2011 Jan 25. [PubMed:21266382 ]