Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status.

ABSTRACT:

Introduction

6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH₄) is an essential cofactor for multiple enzymes, including phenylalanine hydroxylase (PAH). Exogenous BH₄, or its natural precursor sepiapterin, is utilized to treat patients with phenylketonuria (PKU), a disease caused by PAH deficiency. This study aims to investigate correlation of endogenous BH₄ concentrations with related factors, circadian rhythm, sex, race, age, and disease status.

Methods

Predose or placebo treatment blood samples were collected in eight sepiapterin clinical trials from healthy adults and patients of all ages with PKU or primary tetrahydrobiopterin deficiency (PBD) to measure plasma BH₄ concentrations. Graphic visualization, descriptive statist

SUBMITTER: Gao L 

PROVIDER: S-EPMC12757610 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature