- Metabolite
- HMDB0000159 (Phenylalanine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 360-1200 uM
- Age
- Newborn (0-30 days old)
- Sex
- Both
- Condition
- Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (PTPS)
References
- Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW: Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. Am J Hum Genet. 1994 May;54(5):782-92. [PubMed:8178819 ]