- Metabolite
- HMDB0000070 (Pipecolic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 4.1 uM
- Age
- Newborn (0-30 days old)
- Sex
- Female
- Condition
- Rhizomelic chondrodysplasia punctata
Comments
Mild form of condition.
References
- Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM: Clinical approach to inherited peroxisomal disorders: a series of 27 patients. Ann Neurol. 1998 Nov;44(5):720-30. [PubMed:9818927 ]