Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

J Pediatr. 1999 Sep;135(3):375-8. doi: 10.1016/s0022-3476(99)70138-1.

Abstract

Serum phenylalanine concentrations decreased in 4 patients with hyperphenylalaninemia after loading with tetrahydrobiopterin. There were no abnormalities in urinary pteridine excretion or in dihydropteridine reductase activity. However, mutations were detected in the phenylalanine hydroxylase gene, suggesting a novel subtype of phenylalanine hydroxylase deficiency that may respond to treatment with cofactor supplementation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Administration, Oral
  • Adolescent
  • Antioxidants / therapeutic use*
  • Biopterin / analogs & derivatives*
  • Biopterin / therapeutic use
  • Child
  • DNA Mutational Analysis
  • Dihydropteridine Reductase / urine
  • Drug Monitoring
  • Female
  • Humans
  • Male
  • Mutation / genetics
  • Neonatal Screening
  • Phenylalanine / blood
  • Phenylalanine Hydroxylase / deficiency*
  • Phenylalanine Hydroxylase / genetics
  • Phenylketonurias / diagnosis*
  • Phenylketonurias / drug therapy*
  • Phenylketonurias / genetics
  • Phenylketonurias / metabolism

Substances

  • Antioxidants
  • Biopterin
  • Phenylalanine
  • Phenylalanine Hydroxylase
  • Dihydropteridine Reductase
  • sapropterin