caa a22 4500 378937987 CHVBK 20180305123645.0 cr unu---uuuuu 161128e20040709xx s 000 0 eng 10.1515/JPM.2004.073 doi (NATIONALLICENCE)gruyter-10.1515/JPM.2004.073 Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria [Elektronische Daten] [J.B. Hennermann, A. Loui, A. Weber, E. Mönch] Hyperphenylalaninemia in preterm neonates with heterozygosity for phenylketonuria has previously not been described. We report on a very low birth weight infant, born at a gestational age of 27+5 weeks with a birth weight of 1080 g. Due to a positive family history prenatal diagnosis for phenylketonuria was performed, revealing heterozygosity for classic phenylketonuria. Yet the girl showed hyperphenylalaninemia with a maximum serum phenylalanine concentration of 515 μmol/l on the eighth day of life. Phenylalanine-restrictive parenteral and enteral nutrition was kept from the eighth until the 41st day of life. At term serum phenylalanine concentrations had normalized. We hypothesize that heterozygosity for phenylketonuria may be a risk factor for hyperphenylalaninemia in preterm born infants. Prematurity and the resulting immaturity of liver function with the genetically determined reduced activity of phenylalanine hydroxylase might have caused hyperphenylalaninemia in this girl. Copyright © 2004 by Walter de Gruyter GmbH & Co. KG Human reproduction, growth & development nationallicence Gynaecology & obstetrics nationallicence Paediatric medicine nationallicence Hennermann J.B. aut Loui A. aut Weber A. aut Mönch E. aut Journal of Perinatal Medicine Walter de Gruyter 32/4(2004-07-09), 383-385 0300-5577 32:4<383 2004 32 jpme https://doi.org/10.1515/JPM.2004.073 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/JPM.2004.073 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hennermann J.B. aut NATIONALLICENCE 700 1- Loui A. aut NATIONALLICENCE 700 1- Weber A. aut NATIONALLICENCE 700 1- Mönch E. aut NATIONALLICENCE 773 0- Journal of Perinatal Medicine Walter de Gruyter 32/4(2004-07-09), 383-385 0300-5577 32:4<383 2004 32 jpme CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter