- Metabolite
- HMDB0000752 (Methylglutaric acid)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 348 umol/mmol creatinine
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
References
- Santarelli F, Cassanello M, Enea A, Poma F, D'Onofrio V, Guala G, Garrone G, Puccinelli P, Caruso U, Porta F, Spada M: A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013 May 24;39:33. doi: 10.1186/1824-7288-39-33. [PubMed:23705938 ]