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THE SEX RATIO IN PHENYLKETONURIA AND PERSISTENT HYPERPHENYLALANINAEMIA
Author(s) -
YU J. S.,
O'HALLORAN M. T.,
TURNER B.
Publication year - 1971
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1971.tb01052.x
Subject(s) - medicine , pediatrics , sex ratio , phenylalanine , endocrinology , genetics , population , amino acid , environmental health , biology
SYNOPSIS The sex ratio in 76 children with an elevated serum phenylalanine level was studied in relation to their mode of ascertainment. The ratio of the sexes in the whole group was equal, but males outnumbered females 9:4 in classical cases of PKU discovered by means of the Guthrie test. This suggests that a proportion of females with classical PKU is being missed by the Guthrie test when this is performed in the first week of life. Males very markedly outnumber females in the group designated as having persistent hyperphenylalaninaemia. The value of a second follow‐up screening test is emphasised.