About 1.5 million neonates were screened by Guthrie test at the PKU Center of Budapest, Hungary, between 1975 and 1995. During this period, we found 163 neonates with phenylketonuria, an incidence of 1:9,000. We investigated the physical growth, intellectual development, achievement tests, and personality features of 56 patients with classical PKU. According to our longitudinal study, the somatic development of the patients was not significantly different from the Hungarian population standards. The mean verbal and nonverbal IQs were in the normal range. The Bender test has shown remarkable difficulties in observer abilities and movement coordination. The recent IQ of 131 PKU patients was 99.6 ± 16.3. Of 107 patients followed, 82.3% attended normal elementary schools and 17.7% attended special elementary schools. Of 40 children who had already finished elementary school, 92.5% continued their studies - 2.5% attended a university, 42.5% attended a secondary school, 37.5% became skilled workers, and 10% obtained jobs with training. Based on our data, there may be increased risk for mental illness of PKU patients with PAH mutation R408W. Thus, psychological follow up and maintaining the diet for life are important. The distribution of the identified mutations for one allele (R408W 75%, R158Q 10%, Splice IV12 7.5%, Splice IV10 5%, R261Q 2.5%; n = 25) and the different IQ and achievement test results of patients belonging to a severe or milder PKU-group explain why the majority of the Hungarian PKU patients need a very strict diet and dietary control.
|Number of pages||4|
|Publication status||Published - Dec 1 1996|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health