- Metabolite
- HMDB0000289 (Uric acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.000420-0.000440 uM
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- congenital disorder of glycosylation CDG-Ia
References
- Harding BN, Dunger DB, Grant DB, Erdohazi M: Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):385-90. [PubMed:3162953 ]