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. 2018 Aug 8:16:82-89.
doi: 10.1016/j.ymgmr.2018.07.008. eCollection 2018 Sep.

Early feeding practices in infants with phenylketonuria across Europe

A Pinto  1 , S Adams  2 , K Ahring  3 , H Allen  4 , M F Almeida  5   6   7 , D Garcia-Arenas  8 , N Arslan  9 , M Assoun  10 , Y Atik Altınok  11 , D Barrio-Carreras  12 , A Belanger Quintana  13 , S M Bernabei  14 , C Bontemps  15 , F Boyle  16 , G Bruni  17 , M Bueno-Delgado  18 , G Caine  19 , R Carvalho  20 , A Chrobot  21 , K Chyż  22 , B Cochrane  23 , C Correia  24 , K Corthouts  25 , A Daly  1 , S De Leo  26 , A Desloovere  27 , A De Meyer  28 , A De Theux  29 , B Didycz  30 , M E Dijsselhof  31 , K Dokoupil  32 , J Drabik  33 , C Dunlop  34 , W Eberle-Pelloth  35 , K Eftring  36 , J Ekengren  36 , I Errekalde  37 , S Evans  1 , A Foucart  38 , L Fokkema  39 , L François  40 , M French  41 , E Forssell  42 , C Gingell  43 , C Gonçalves  44 , H Gökmen Özel  45 , A Grimsley  46 , G Gugelmo  47 , E Gyüre  48 , C Heller  49 , R Hensler  50 , I Jardim  51 , C Joost  52 , M Jörg-Streller  53 , C Jouault  54 , A Jung  55 , M Kanthe  56 , N Koç  57 , I L Kok  39 , T Kozanoğlu  58 , B Kumru  59 , F Lang  60 , K Lang  61 , I Liegeois  62 , A Liguori  14 , R Lilje  63 , O Ļubina  64 , P Manta-Vogli  65 , D Mayr  66 , C Meneses  67 , C Newby  68 , U Meyer  69 , S Mexia  51 , C Nicol  2 , U Och  70 , S M Olivas  8 , C Pedrón-Giner  71 , R Pereira  72 , K Plutowska-Hoffmann  73 , J Purves  34 , A Re Dionigi  74 , K Reinson  75 , M Robert  76 , L Robertson  34 , J C Rocha  5   7   77   78 , C Rohde  79 , S Rosenbaum-Fabian  80 , A Rossi  81 , M Ruiz  82 , J Saligova  83 , A Gutiérrez-Sánchez  8 , A Schlune  84 , K Schulpis  65 , J Serrano-Nieto  85 , A Skarpalezou  86 , R Skeath  87 , A Slabbert  88 , K Straczek  89 , M Giżewska  89 , A Terry  90 , R Thom  46 , A Tooke  43 , J Tuokkola  91 , E van Dam  92 , T A M van den Hurk  39 , E M C van der Ploeg  93 , K Vande Kerckhove  25 , M Van Driessche  27 , A M J van Wegberg  94 , K van Wyk  95 , C Vasconcelos  96 , V Velez García  97 , J Wildgoose  98 , T Winkler  99 , J Żółkowska  22 , J Zuvadelli  74 , A MacDonald  1
Affiliations

Early feeding practices in infants with phenylketonuria across Europe

A Pinto et al. Mol Genet Metab Rep. .

Abstract

Background: In infants with phenylketonuria (PKU), dietary management is based on lowering and titrating phenylalanine (Phe) intake from breast milk or standard infant formula in combination with a Phe-free infant formula in order to maintain blood Phe levels within target range. Professionals use different methods to feed infants with PKU and our survey aimed to document practices across Europe.

Methods: We sent a cross sectional, survey monkey® questionnaire to European health professionals working in IMD. It contained 31 open and multiple-choice questions. The results were analysed according to different geographical regions.

Results: Ninety-five centres from 21 countries responded. Over 60% of centres commenced diet in infants by age 10 days, with 58% of centres implementing newborn screening by day 3 post birth. At diagnosis, infant hospital admission occurred in 61% of metabolic centres, mainly in Eastern, Western and Southern Europe. Breastfeeding fell sharply following diagnosis with only 30% of women still breast feeding at 6 months.53% of centres gave pre-measured Phe-free infant formula before each breast feed and 23% alternated breast feeds with Phe-free infant formula. With standard infant formula feeds, measured amounts were followed by Phe-free infant formula to satiety in 37% of centres (n = 35/95), whereas 44% (n = 42/95) advised mixing both formulas together. Weaning commenced between 17 and 26 weeks in 85% centres, ≥26 weeks in 12% and < 17 weeks in 3%.

Discussion: This is the largest European survey completed on PKU infant feeding practices. It is evident that practices varied widely across Europe, and the practicalities of infant feeding in PKU received little focus in the PKU European Guidelines (2017). There are few reports comparing different feeding techniques with blood Phe control, Phe fluctuations and growth. Controlled prospective studies are necessary to assess how different infant feeding practices may influence longer term feeding development.

Keywords: Breastfeeding; IMD, Inherited Metabolic Disorders; Infant practices; PKU, Phenylketonuria; Phe, Phenylalanine; Phe-free infant formula; Phenylalanine; Phenylketonuria.

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Figures

Fig. 1
Fig. 1
Percentage of centres who admitted infants to hospital on diagnosis of PKU.
Fig. 2
Fig. 2
Percentage of centres breastfeeding infants with PKU at time of diagnosis and post diagnosis.
Fig. 3
Fig. 3
Description by different European geographical regions of how Phe–free infant formula is given when a standard formula is used to provide the phenylalanine source. Abbreviations: A: give a measured amount of Phe-free infant formula first followed by a measured amount of standard infant formula; B: give a measured amount of standard infant formula followed by Phe-free infant formula to satiety; C: mix Phe-free infant formula with standard infant formula; D: alternate feeds of standard infant formula and Phe-free Infant formula.
See this image and copyright information in PMC

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