title: Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.
abstract: Women with hyperphenylalaninemia are at risk of having offspring affected with the maternal phenylketonuria syndrome. Here we analyze the effect of the intervention of a nutritionist on plasma phenylalanine control in Maternal Hyperphenylalaninemia. We analyzed a retrospective cohort of 35 completed pregnancies in 20 women with Maternal Hyperphenylalaninemia who visited the metabolic nutritionist during the pregnancy to achieve metabolic control. Women who promptly achieved metabolic control had lower plasma phenylalanine concentrations for the remainder of the pregnancy when compared to women who did not achieve prompt control, and this difference reached statistical significance. The achievement of plasma phenylalanine concentrations within the desired target range by the time of the second visit to the nutritionist is a strong predictor of the ability to maintain the desired target range of plasma phenylalanine for the remainder of the pregnancy. Furthermore, we demonstrate that phenylalanine tolerance increases significantly by trimester in women with classical and variant hyperphenylalaninemia.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Blalock 1008, Baltimore, MD 21287, USA. tmarti34@jhmi.edu
authors.forename: Teresa
authors.initials: T
authors.lastname: Martino
authors.forename: Celide
authors.initials: C
authors.lastname: Koerner
authors.forename: Gayane
authors.initials: G
authors.lastname: Yenokyan
authors.forename: Julie
authors.initials: J
authors.lastname: Hoover-Fong
authors.forename: Ada
authors.initials: A
authors.lastname: Hamosh
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D010649:Phenylalanine / Q000378:metabolism*; D017042:Phenylketonuria, Maternal / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D010661:Phenylketonurias / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D012189:Retrospective Studies
chemical_list: D010649:Phenylalanine
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