[Results of a nine-year phenylketonuria (PKU) screening (author's transl)].
The percentage of children in Nordrhein-Westfalen who were tested for PKU free of charge and on a voluntary basis rose from 25.3% (1966) to 99.5% (1973). Among 1,431,999 newly born children, 262 children with suspected PKU were found, 225 of them diagnosed early and 37 late, 181 with "typical" and 81 with "atypical" PKU. Most of 102 children with late diagnosed PKU had an I.Q. of 80-50 or less, while in 95 children treated early, it was over 91 in 80% and below 90 in only 20%. There was a statistically highly significant difference in the I.Q. distribution between patients diagnosed early and those diagnosed late, while the mental development of phenylketonuria patients treated early was not different from that of a homogenous population group under the same conditions. After extending the test program in 1966, 1 maple syrup urine disease, 3 homocystinurias, 3 galactosemias and 1 galactokinase deficiency were found in addition to PKU.
D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D005693:Galactosemias / Q000175:diagnosis; D005860:Germany, West; D006712:Homocystinuria / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D007360:Intelligence; D008375:Maple Syrup Urine Disease / Q000175:diagnosis; D008403:Mass Screening; D010661:Phenylketonurias / Q000150:complications / Q000175:diagnosis*; D010770:Phosphotransferases / Q000172:deficiency; D013997:Time Factors
D010770:Phosphotransferases
Ergebnisse eines neunjährigen Phenylketonurie-Screenings