- Metabolite
- HMDB0000134 (Fumaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 17-124 umol/mmol creatinine
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- 2-Ketoglutarate dehydrogenase complex deficiency
Comments
In children of 0-32 months old
References
- Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A: Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr. 1992 Aug;121(2):255-8. [PubMed:1640293 ]