- Metabolite
- HMDB0000657 (Copper)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 4.878-11.645 uM
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- Congenital cataracts, hearing loss, and neurodegeneration
References
- Horvath R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Muller-Hocker J, Pongratz D, Moller LB, Horn N, Jaksch M: Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. J Inherit Metab Dis. 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. [PubMed:15902551 ]