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The frequency of PKU and hyperphenylalaninemia in Sweden ‐ a study in institutions for the mentally retarded as well as in neonates
Author(s) -
Holmgren Gösta,
Larsson Agne,
Palmstierna Hans,
Alm Jan
Publication year - 1976
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1976.tb00054.x
Subject(s) - hyperphenylalaninemia , mentally retarded , medicine , phenylketonurias , pediatrics , psychiatry , psychology , developmental psychology , genetics , phenylalanine , biology , amino acid
In a country‐wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965–1975, which covered nearly 1 million individuals, PKU was observed in 36 and hyperphenylalaninemia in 19 individuals. The incidences of PKU and hyperphenylalaninemia in newborns are calculated to be 1/26,000 and 1/50,000, respectively. In addition, PKU and hyperphenylalaninemia were diagnosed in 14 and 1 non‐institutionalized individuals, respectively, born before September 1965. The total numbers of individuals detected as having PKU and hyperphenylalaninemia in Sweden in the present investigation are 125 and 34, respectively.