- Metabolite
- HMDB0000214 (Ornithine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 33 +/- 15 uM
- Age
- Children (1-13 years old)
- Sex
- Both
- Condition
- Cutis laxa, autosomal recessive, type IIIA
References
- Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D: Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. [PubMed:11092761 ]