Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.

@article{Liu2001TetrahydrobiopterindeficientHI,
  title={Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.},
  author={Tengyan Liu and Shian Huey Chiang and Shan Jean Wu and Kenny Hsiao},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2001},
  volume={313 1-2},
  pages={
          157-69
        }
}
BACKGROUND Hyperphenylalaninemia (HPA) may be caused by either a deficiency in phenylalanine-4-hydroxylase or in tetrahydrobiopterin (BH4), the essential cofactor required for the hydroxylation of aromatic amino acids. The most common forms of BH4 deficiency are 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency (MIM 261640) and dihydropteridine reductase (DHPR) deficiency (MIM 261630), which require a different treatment from classical HPA. RESULTS Approximately 86% of BH4-deficient HPA… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 15 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 51 REFERENCES

A novel missense mutation in 6pyruvoyltetrahydropterin synthase gene

  • XQ Liu, KJ Hsiao, XF Gu
  • Chin J Med Ž . Genet
  • 1998

Genomic structure of 6-Pyruvoyltetrahydropterin synthase gene and a TrC polymorphism detected in Chinese

  • TT Liu, SF Lu, KJ. Hsiao
  • J Biomed Lab Sci ;10:39–47
  • 1998

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency

  • TT Liu, KJ Hsiao, SF Lu
  • Hum Mutat ;11:76–83
  • 1998

Similar Papers

Loading similar papers…