- Metabolite
- HMDB0000050 (Adenosine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 6.3-7.2 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- Adenylosuccinase deficiency
Comments
n=3. Significantly higher than normal, but no p value
References
- Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH: Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep. [PubMed:27504266 ]