- Metabolite
- HMDB0000161 (L-Alanine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- <414 uM
- Age
- Newborn (0-30 days old)
- Sex
- Not Specified
- Condition
- Normal
References
- Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F: Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9. Eur J Hum Genet. 2016 Mar;24(3):450-4. doi: 10.1038/ejhg.2015.133. Epub 2015 Jun 17. [PubMed:26081641 ]