title: Extremely high phenylalanine levels in a newborn on parenteral nutrition: phenylketonuria in the neonatal intensive care unit.
abstract: A 1890-g newborn on total parenteral nutrition (TPN) had phenylalanine levels reaching 4164 μM indicating phenylketonuria (PKU). Review of 64 PKU cases from the California Newborn Screening Program disclosed another newborn diagnosed while on TPN. Phenylalanine levels rose five times faster with TPN, as estimated from rates in these infants. Thus, TPN use is associated with very high phenylalanine levels in newborns with PKU. When starting TPN soon after birth (for example, on day 1), early detection of PKU-by newborn screening 12 to 24 h after infusions are begun-should be helpful in limiting exposures to toxic levels of phenylalanine.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA. hlin@labiomed.org
authors.forename: H J
authors.initials: HJ
authors.lastname: Lin
authors.forename: A M
authors.initials: AM
authors.lastname: Kwong
authors.forename: J M
authors.initials: JM
authors.lastname: Carter
authors.forename: B F
authors.initials: BF
authors.lastname: Ferreira
authors.forename: M F
authors.initials: MF
authors.lastname: Austin
authors.forename: K
authors.initials: K
authors.lastname: Devarajan
authors.forename: R J
authors.initials: RJ
authors.lastname: Coleman
authors.forename: L B
authors.initials: LB
authors.lastname: Feuchtbaum
authors.forename: F
authors.initials: F
authors.lastname: Lorey
authors.forename: A J
authors.initials: AJ
authors.lastname: Jonas
mesh_terms: D000596:Amino Acids / Q000008:administration & dosage / Q000009:adverse effects; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D015997:Neonatal Screening; D010289:Parenteral Nutrition, Total / Q000009:adverse effects* / Q000379:methods; D010649:Phenylalanine / Q000008:administration & dosage / Q000097:blood*; D010661:Phenylketonurias / Q000209:etiology / Q000517:prevention & control*; D018570:Risk Assessment; D012720:Severity of Illness Index
chemical_list: D000596:Amino Acids; D010649:Phenylalanine