caa a22 4500 475785886 CHVBK 20180406123658.0 cr unu---uuuuu 170329e20000901xx s 000 0 eng 10.1007/PL00014379 doi (NATIONALLICENCE)springer-10.1007/PL00014379 Final intelligence in late treated patients with phenylketonuria [Elektronische Daten] [Friedrich K. Trefz, Sanja Cipcic-Schmidt, Richard Koch] Despite neonatal screening programmes, there is still a number of patients with phenylketonuria who are not diagnosed and start treatment late. The question in this study was to evaluate which factors will contribute, other than the quality and duration of dietary treatment, to final outcome in late treated patients with phenylketonuria. We retrospectively analysed the data of 40 patients with phenylketonuria, of whom 2 patients at 35 and 24 years of age had a normal IQ despite never being treated. In 38 patients starting dietary treatment between 0.7 and 7 years of age, mean IQ/DQ at diagnosis was 52.7 (SD=16) (mean age 2.5 years), final IQ (mean age 33.5 years) was 79.0 (SD=16), the difference was highly significant (P < 0.0001). Important factors for the final intelligence in adult late treated patients with phenylketonuria were onset (r=−0.46, P < 0.009) and DQ/IQ (r=0.51, P < 0.002) when dietary treatment was started. Thus, in late treated patients with phenylketonuria, in addition to the quality and duration of treatment, the outcome is mainly influenced by the age of starting treatment and also by the intellectual status of the patient. In one of the two patients with normal intelligence, nuclear magnetic resonance spectroscopy showed that brain phenylalanine was undetectable even though blood phenylalanine was 30 mg/dl. A second metabolic disorder may protect these patients from severe brain damage. Conclusion These data indicate that brain damage in untreated or late treated patients with phenylketonuria is influenced by various genetic factors. Springer-Verlag Berlin Heidelberg, 2000 Key words Intelligence nationallicence Late treatment nationallicence Modifier gene nationallicence Phenylalanine hydroxylase nationallicence Phenylketonuria nationallicence AbbreviationPKU phenylketonuria nationallicence Trefz Friedrich K. Klinik für Kinder und Jugendmedizin, Steinenbergstrasse 31, 72764 Reutlingen, Germany e-mail: friedrich-karl.trefz@oe.uni-tuebingen.de Tel.: +49-7121-2003413; Fax: +49-7121-2003571, DE aut Cipcic-Schmidt Sanja Klinik für Kinder und Jugendmedizin, Steinenbergstrasse 31, 72764 Reutlingen, Germany e-mail: friedrich-karl.trefz@oe.uni-tuebingen.de Tel.: +49-7121-2003413; Fax: +49-7121-2003571, DE aut Koch Richard Division of Medical Genetics, Childrens Hospital, Los Angeles, California, USA, US aut https://doi.org/10.1007/PL00014379 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014379 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Trefz Friedrich K. Klinik für Kinder und Jugendmedizin, Steinenbergstrasse 31, 72764 Reutlingen, Germany e-mail: friedrich-karl.trefz@oe.uni-tuebingen.de Tel.: +49-7121-2003413; Fax: +49-7121-2003571, DE aut NATIONALLICENCE 700 1- Cipcic-Schmidt Sanja Klinik für Kinder und Jugendmedizin, Steinenbergstrasse 31, 72764 Reutlingen, Germany e-mail: friedrich-karl.trefz@oe.uni-tuebingen.de Tel.: +49-7121-2003413; Fax: +49-7121-2003571, DE aut NATIONALLICENCE 700 1- Koch Richard Division of Medical Genetics, Childrens Hospital, Los Angeles, California, USA, US aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer