Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations

Eur J Pediatr. 2002 Jul;161(7):403-5. doi: 10.1007/s00431-002-0966-0.

Abstract

The effect of tetrahydrobiopterin (BH(4)) administration was studied in three infants with BH(4) responsive phenylalanine hydroxylase (PAH) deficiency by correlating different BH(4) doses with plasma phenylalanine levels under defined protein intake.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Biopterins / administration & dosage*
  • Biopterins / analogs & derivatives*
  • Dose-Response Relationship, Drug
  • Drug Administration Schedule
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenylalanine / blood*
  • Phenylalanine / drug effects
  • Phenylketonurias / diagnosis
  • Phenylketonurias / drug therapy*
  • Phenylketonurias / genetics*
  • Severity of Illness Index
  • Treatment Outcome

Substances

  • Biopterins
  • Phenylalanine
  • sapropterin