- Metabolite
- HMDB0000051 (Ammonia)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 110-270 uM
- Age
- Newborn (0-30 days old)
- Sex
- Male
- Condition
- Narp Syndrome
References
- Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chretien D, Rotig A, Rabier D, Saudubray JM, Rustin P, Munnich A: The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia. Eur J Pediatr. 1999 Jan;158(1):55-8. [PubMed:9950309 ]