Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

J Weglage; M Grenzebach; A von Teeffelen-Heithoff; T Marquardt; R Feldmann; J Denecke; D Gödde; H G Koch

doi:10.1023/a:1016514727870

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

J Inherit Metab Dis. 2002 Aug;25(4):321-2. doi: 10.1023/a:1016514727870.

Authors

J Weglage¹, M Grenzebach, A von Teeffelen-Heithoff, T Marquardt, R Feldmann, J Denecke, D Gödde, H G Koch

Affiliation

¹ Department of Pediatrics, University Hospital of Münster, Germany. weglage@uni-muenster.de

PMID: 12227464
DOI: 10.1023/a:1016514727870

Abstract

In a group of 87 consecutive patients with hyperphenylalaninaemia born since 1990, only 3 patients showed a (temporary) decrease of serum phenylalanine levels after tetrahydrobiopterin (BH4) loading in usual doses (20 mg/kg body weight).

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopterins / analogs & derivatives*
Biopterins / therapeutic use*
Female
Humans
Infant, Newborn
Male
Neonatal Screening
Phenylalanine / blood
Phenylalanine Hydroxylase / blood
Phenylalanine Hydroxylase / deficiency
Phenylketonurias / drug therapy*
Retrospective Studies

Substances

Biopterins
Phenylalanine
Phenylalanine Hydroxylase
sapropterin