- Metabolite
- HMDB0000586 (Potassium)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 16180-38180 umol/mmol creatinine
- Age
- Adult (>18 years old)
- Sex
- Female
- Condition
- Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES)
References
- Scholl UI, Choi M, Liu T, Ramaekers VT, Hausler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16. [PubMed:19289823 ]