Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status
Circadian rhythm and significant differences between sexes and races in BH<sub>4</sub> concentrations were observed in healthy adults. BH<sub>4</sub> concentrations do not change with age in healthy adults and PKU patients >2 years. BH<sub>4</sub> concentrations were relatively stable between 7:00 and 10:59, providing a window for measurements with minimal variation. The significant difference in BH<sub>4</sub> concentrations between patients with PBD, patients with PKU, and healthy adults could be utilized as a diagnostic tool.
Authors
- Ronald Kong (ORCID: https://orcid.org/0000-0002-4692-7499)
- Lan Gao (ORCID: https://orcid.org/0000-0002-2528-7656)
- Neil Smith (ORCID: https://orcid.org/0000-0001-8876-3958)
Institutions
- PTC Therapeutics (United States) (US)
Publication Details
- Journal
- Frontiers in Pharmacology
- Published
- 2025-12-05
- DOI
- https://doi.org/10.3389/fphar.2025.1701617
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32
Funders
- PTC Therapeutics