For the PKU Special Issue
PKU Mutation in Brief
Article first published online: 19 MAR 2003
Copyright © 2003 Wiley-Liss, Inc.
Volume 21, Issue 4, page 400, April 2003
How to Cite
Lindner, M., Steinfeld, R., Burgard, P., Schulze, A., Mayatepek, E. and Zschocke, J. (2003), Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum. Mutat., 21: 400. doi: 10.1002/humu.9117
Online Citation: Human Mutation, Mutation in Brief #588 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/588.pdf
- Issue published online: 19 MAR 2003
- Article first published online: 19 MAR 2003
- Cited By
- tetrahydrobiopterin sensitivity;
- phenylalanine hydroxylase;
We report the results of tetrahydrobiopterin (BH4) loading tests in 10 German patients with mild phenylketonuria. A significant decline of phenylalanine values after application of BH4 was observed in all but one patients. Molecular genetic analyses revealed a range of different PAH gene mutations. Re-testing of one patient previously reported as non-responsive to BH4 loading showed a moderate response with a higher dose of BH4. Nevertheless, there appear to be kinetic differences in phenylalanine hydroxylation in patients with the same genotype. Non-responsiveness to 20 mg/kg BH4 was observed only in a single patient who was compound heterozygous for the novel mutation R176P (c.527G>C) and the common null-mutation P281L. In summary, our data are in line with recent reports indicating that BH4 sensitivity is a normal feature of most mild forms of PAH deficiency but may be influenced by other factors. © 2003 Wiley-Liss, Inc.