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Clin Genet. 2016 Sep;90(3):247-51. doi: 10.1111/cge.12692. Epub 2015 Dec 12.

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

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Clinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark.
Department of Pediatrics Hvidovre Hospital Kettegård Alle 30, 2650 Hvidovre, Denmark.
Clinical Genetic Clinic, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark.
Department of Science, Systems and Models (NSM), Roskilde University, DK 4000 Roskilde, Denmark.


We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most frequent mutation c.1315+1G>A (IVS12+1G>A) was found on 25.80% of the 744 alleles. Other very frequent mutations were c.1222C>T (p.R408W) (16.93%) and c.1241A>G (p.Y414C) (11.15%). Among the identified mutations, five mutations; c.532G>A (p.E178K), c.730C>T (p.P244S), c.925G>A (p.A309T), c.1228T>A (p.F410I), and c.1199+4A>G (IVS11+4A>G) have not been reported previously. The metabolic phenotypes of PKU are classified into four categories; 'classical PKU', 'moderate PKU', 'mild PKU' and 'mild hyperphenylalaninemia'. In this study, we assigned the phenotypic outcome of three of the five novel mutations and furthermore six not previously classified mutations to one of the four PKU categories.


PAH; PKU; classification; genotype-phenotype

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