- Metabolite
- HMDB0002169 (S-(2-carboxypropyl)-Cysteamine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 14-30 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- Short-chain enoyl-CoA hydratase deficiency
Comments
n=2
References
- Peters H, Ferdinandusse S, Ruiter JP, Wanders RJ, Boneh A, Pitt J: Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. Mol Genet Metab. 2015 Aug;115(4):168-73. doi: 10.1016/j.ymgme.2015.06.008. Epub 2015 Jun 24. [PubMed:26163321 ]