title: Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant.
abstract: Few cases of premature infants with classical phenylketonuria (PKU) have been reported. Treatment of these patients is challenging due to the lack of a phenylalanine (Phe)-free amino acid (AA) solution for parenteral nutrition. A boy born at 27 weeks of gestation with a weight of 1000 g was diagnosed with classical PKU on day 7 because of highly elevated Phe level at newborn screening (2800 µmol/L). Phe intake was suspended for 5 days and during this time intravenous glucose and lipids as well as small amounts of Phe-free formula through nasogastric tube were given. Because of insufficient weight gain attributable to deficiency of essential AA, a Phe-reduced, BCAA-enriched parenteral nutrition was added to satisfy AA requirements without overloading in Phe. Under this regimen, the boy started to gain weight, Phe plasma levels progressively reduced and normalized on day 19. At the age of 40 months, the patient shows normal growth parameters (height 25th percentile, weight 25-50(th) percentile, head circumference 50(th) percentile) with a normal result for formally tested psychomotor development (WPPSI-III). The good outcome of the patient in spite of over 2 weeks of extremely high Phe concentrations suggests that the premature brain may still have enough plasticity to recover. Lacking a Phe-free intravenous AA solution, successful management of premature infants with PKU depends on the child's tolerance of enteral nutrition. Although the coincidence of PKU and prematurity is rare, there is strong need for the development of an appropriate Phe-free amino acid solution for parenteral nutrition especially in case of gastro-intestinal complications of prematurity.
authors.affiliation: Division of Molecular Pediatrics.
authors.forename: Diana
authors.initials: D
authors.lastname: Ballhausen
authors.forename: Delphine
authors.initials: D
authors.lastname: Egli
authors.forename: Myriam
authors.initials: M
authors.lastname: Bickle-Graz
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Bianchi
authors.forename: Luisa
authors.initials: L
authors.lastname: Bonafé