- Metabolite
- HMDB0001333 (Manganese)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.963-3.830 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Hypermanganesemia with dystonia 2
References
- Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW: Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. [PubMed:27231142 ]