Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

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SHR Neuro Krebs Kardio Lipid

Sterl, E; Paul, K; Paschke, E; Zschocke, J; Brunner-Krainz, M; Windisch, E; Konstantopoulou, V; Möslinger, D; Karall, D; Scholl-Bürgi, S; Sperl, W; Lagler, F; Plecko, B.
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis. 2013; 36(1):7-13
Web of Science PubMed FullText FullText_MUG


Autor/innen der Med Uni Graz:
Brunner-Krainz Michaela
Paschke Eduard
Paul Karl
Plecko Barbara

Dimensions Citations:

Plum Analytics:
Phenylketonuria (PKU, MIM 261600) is an autosomal recessive disorder caused by mutations of the phenylalanine hydroxylase gene (PAH, GenBank U49897.1, RefSeq NM_000277). To date more than 560 variants of the PAH gene have been identified. In Europe there is regional distribution of specific mutations. Due to recent progress in chaperone therapy, the prevalence of BH4-responsive alleles gained therapeutic importance. Here we report the mutational spectrum of PAH deficiency in 147 unrelated Austrian families. Overall mutation detection rate was 98.6 %. There was a total of 62 disease-causing mutations, including five novel mutations IVS4 + 6T>A, p.H290Y, IVS8-2A>G, p.A322V and p.I421S. The five most prevalent mutations found in patients were p.R408W, IVS12 + 1G>A, p.R261Q, p.R158Q and IVS2 + 5G>C. Neonatal phenylalanine levels before treatment were available in 114/147 patients. Prediction of BH4-responsiveness in patients with full genotypes was exclusively made according to published data. Among the 133 patients needing dietary treatment, 28.4 % are expected to be BH4 "non-responsive", 4.5 % are highly likely BH4-responsive, 35.8 % are probably BH4-responsive while no interpretation was possible for 31.3 %. The mutation data reflect the population history of Austria and provide information on the likely proportion of Austrian PKU patients that may benefit from BH4-therapy.
Find related publications in this database (using NLM MeSH Indexing)
Alleles -
Alleles -
Biopterin - analogs & derivatives
Biopterin - pharmacology
DNA - blood
DNA - genetics
Genotype -
Humans -
Mutation -
Phenylalanine Hydroxylase - deficiency
Phenylalanine Hydroxylase - genetics
Phenylketonurias - blood
Phenylketonurias - drug therapy
Phenylketonurias - enzymology
Phenylketonurias - genetics
Prevalence -

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