Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency
Open Access
- 19 March 2003
- journal article
- pku mutation-in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 21 (4) , 400
- https://doi.org/10.1002/humu.9117
Abstract
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.Keywords
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