- Metabolite
- HMDB0000070 (Pipecolic acid)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 24-33 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Hyperlysinemia I, familial
References
- Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Duenas B, Perez-Cerda C, Artuch R: Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency. Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6. [PubMed:23890588 ]