- Metabolite
- HMDB0000208 (Oxoglutaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1374 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Female
- Condition
- Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome
References
- James AW, Miranda SG, Culver K, Hall BD, Golabi M: DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. 2007 Dec 1;143A(23):2821-31. doi: 10.1002/ajmg.a.32054. [PubMed:17994565 ]