Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.

@article{Ye2002ScreeningFT,
  title={Screening for tetrahydrobiopterin deficiency among hyperphenylalaninemia patients in Southern China.},
  author={Jun Ye and Xiaoqing Liu and Xieqin Ma and Yafen Zhang and Xiaodong Huang and Ruiguan Chen and Xue-fan Gu},
  journal={Chinese medical journal},
  year={2002},
  volume={115 2},
  pages={217-21}
}
OBJECTIVES To assess the incidence of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in southern Chinese and evaluate clinical outcome and gene mutations in tetrahydrobiopterin deficient patients. METHODS Urinary neopterin (N) and biopterin (B) was analyzed in 87 patients with hyperphenylalaninemia by high-performance liquid chromatography. Further combined loading tests with phenylalanine (Phe) (100 mg/kg) and tetrahydrobiopterin (BH4) (7.5 mg/kg) were… CONTINUE READING