- Metabolite
- HMDB0000123 (Glycine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 906 uM
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- Hyperglycinemia, lactic acidosis, and seizures
References
- Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W: Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. [PubMed:22152680 ]