Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations

J Inherit Metab Dis. 2001 Dec;24(8):815-23. doi: 10.1023/a:1013984022994.


Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levodopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytryptophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Hydroxytryptophan / therapeutic use
  • Base Sequence
  • Biopterin / analogs & derivatives*
  • Biopterin / deficiency
  • Biopterin / therapeutic use
  • DNA Mutational Analysis
  • Founder Effect
  • Humans
  • Infant, Newborn
  • Intelligence
  • Levodopa / therapeutic use
  • Mutation*
  • Neonatal Screening
  • Phenylalanine / administration & dosage
  • Phenylalanine / blood
  • Phenylketonurias / enzymology*
  • Phenylketonurias / genetics*
  • Phenylketonurias / psychology
  • Phenylketonurias / therapy
  • Phosphorus-Oxygen Lyases / genetics*
  • Taiwan
  • Treatment Outcome


  • Biopterin
  • Levodopa
  • Phenylalanine
  • 5-Hydroxytryptophan
  • Phosphorus-Oxygen Lyases
  • 6-pyruvoyltetrahydropterin synthase
  • sapropterin