Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.

Raphaël Teissier 1, * Emmanuel Nowak 2 Murielle Assoun 3 Karine Mention 4 Aline Cano 5 Alain Fouilhoux 6 François Feillet 7 Hélène Ogier 8, 9 Emmanuel Oger 2 Loïc De Parscau 1, 10, 11 Non Renseigné
* Auteur correspondant
1 CHU BREST Pédiatrie - CHRU de Brest - Département de Pédiatrie
2 CIC - Brest - Centre d'Investigation Clinique
3 AFDPHE - Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
4 AFDPHE - Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
5 AFDPHE - Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
6 AFDPHE - Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant
7 MaMEA Nancy-Brabois - Centre de référence des maladies héréditaires du métabolisme
8 CETNP - Comité d'Evaluation du Traitement pour les maladies de Niemann-Pick
9 Centre Référence des Maladies Héréditaires du Métabolisme [Paris-Robert Debré]
10 Réseau Maladies Métaboliques
11 Service de Pédiatrie et Génétique Médicale
Abstract : BACKGROUND: Malformations and mental retardation in the offspring of women with Phenylketonuria (PKU) can be prevented by maintaining maternal blood Phenylalanine (PHE) within a target range (120-300 μmol/L) through a PHE-restricted diet. In a former French study, a high and unexpected proportion of intra uterine growth retardation (IUGR) has been reported. Guidelines have been proposed to all French centres caring for maternal PKU since 2002. OBJECTIVE: To confirm IUGR and investigate its causes. The other goals were to assess the follow-up of these pregnancies based on the new guidelines and the pertinence of these recommendations. DESIGN: Clinical, biological and ultrasound data of all pregnancies in PKU women in France, from 2002 to 2007 were retrospectively analyzed. RESULTS: Data from 115 pregnancies in 86 women with PKU were collected. Ninety percent of women had been informed of the risk of maternal PKU in the absence of a strict diet during pregnancy, 88 % of women had started a diet before conception, and 45 % of infants were born small for gestational age (birth length and/or weight ≤-2 SD). PHE intakes were lower in the group with IUGR from the fifth to the eighth month of pregnancy and duration of time spent at <120 μmol/L during pregnancy was associated with a higher risk of IUGR. CONCLUSION: Hyperphenylalaninemia (HPA) is not the only risk factor for IUGR; PHE lower than 120 μmol/L could also be associated with the IUGR occurence. Even if the monitoring of these pregnancies has been improved since the initiation of guidelines, we would like to stress on the importance of the dietary aspect of the disease.
Type de document :
Article dans une revue
Journal of Inherited Metabolic Disease, Springer Verlag, 2012, 35 (6), pp.993-999. 〈10.1007/s10545-012-9491-0〉
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http://hal.univ-brest.fr/hal-00759354
Contributeur : Ghislaine Calvez <>
Soumis le : vendredi 30 novembre 2012 - 14:52:02
Dernière modification le : jeudi 8 février 2018 - 15:56:29

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Raphaël Teissier, Emmanuel Nowak, Murielle Assoun, Karine Mention, Aline Cano, et al.. Maternal phenylketonuria: low phenylalaninemia might increase the risk of intra uterine growth retardation.. Journal of Inherited Metabolic Disease, Springer Verlag, 2012, 35 (6), pp.993-999. 〈10.1007/s10545-012-9491-0〉. 〈hal-00759354〉

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