Tetrahydrobiopterin responsiveness in a large series of phenylke tonuria patients

1 June 2002

journal article
case report
Published by Wiley in Journal of Inherited Metabolic Disease

Vol. 25 (4) , 321-322
https://doi.org/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).

Keywords

PUBLIC HEALTH
BODY WEIGHT
INTERNAL MEDICINE
PHENYLALANINE
LARGE SERIES

This publication has 3 references indexed in Scilit:

Tetrahydrobiopterin Responsiveness in Phenylketonuria Differs between Patients with the Same Genotype
Molecular Genetics and Metabolism, 2001
Successful treatment of phenylketonuria with tetrahydrobiopterin
European Journal of Pediatrics, 2001
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
The Journal of Pediatrics, 1999