BackgroundIn 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.MethodsWe 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.ResultsNinety-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%.DiscussionThis 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.
BackgroundIn phenylketonuria (PKU), weaning is considered more challenging when compared to feeding healthy infants. The primary aim of weaning is to gradually replace natural protein from breast milk or standard infant formula with solids containing equivalent phenylalanine (Phe). In addition, a Phe-free second stage L-amino acid supplement is usually recommended from around 6 months to replace Phe-free infant formula. Our aim was to assess different weaning approaches used by health professionals across Europe.MethodsA cross sectional questionnaire (survey monkey®) composed of 31 multiple and single choice questions was sent to European colleagues caring for inherited metabolic disorders (IMD). Centres were grouped into geographical regions for analysis.ResultsWeaning started at 17–26 weeks in 85% (n = 81/95) of centres, >26 weeks in 12% (n = 11/95) and < 17 weeks in 3% (n = 3/95). Infant's showing an interest in solid foods, and their age, were important determinant factors influencing weaning commencement. 51% (n = 48/95) of centres introduced Phe containing foods at 17–26 weeks and 48% (n = 46/95) at >26 weeks. First solids were mainly low Phe vegetables (59%, n = 56/95) and fruit (34%, n = 32/95).A Phe exchange system to allocate dietary Phe was used by 52% (n = 49/95) of centres predominantly from Northern and Southern Europe and 48% (n = 46/95) calculated most Phe containing food sources (all centres in Eastern Europe and the majority from Germany and Austria). Some centres used a combination of both methods.A second stage Phe-free L-amino acid supplement containing a higher protein equivalent was introduced by 41% (n = 39/95) of centres at infant age 26–36 weeks (mainly from Germany, Austria, Northern and Eastern Europe) and 37% (n = 35/95) at infant age > 1y mainly from Southern Europe. 53% (n = 50/95) of centres recommended a second stage Phe-free L-amino acid supplement in a spoonable or semi-solid form.ConclusionsWeaning strategies vary throughout European PKU centres. There is evidence to suggest that different infant weaning strategies may influence longer term adherence to the PKU diet or acceptance of Phe-free L-amino acid supplements; rendering prospective long-term studies important. It is essential to identify an effective weaning strategy that reduces caregiver burden but is associated with acceptable dietary adherence and optimal infant feeding development.
Purpose Phenylketonuria (PKU) can be effectively treated with the use of a low-phenylalanine diet. However, some patients become overweight despite proper dietary treatment. We hypothesized that this phenomenon could be explained by the presence of specific variants within the genes involved in phenylalanine transport or in the phenylalanine transamination/oxygenation pathway. Methods We selected a clinically homogenous group of 100 infants with PKU and assessed their growth patterns in the context of dietary phenylalanine tolerance. Next, within the sample, we performed exome sequencing and assessed a potential relationship between the observed phenotypical variability and the presence of structural variants in a priori selected genes of interest. Results We detected a highly significant association between overweight and carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 ( LAT1 ) gene, which encodes the main transmembrane transporter of large neutral amino acids and of thyroid hormones. Conclusions Our findings suggest a pharmacogenetic effect of the relatively common rs113883650/rs2287120 haplotype of the SLC7A5 gene. This can have practical implications for patients with PKU, since treatment protocols need to be reassessed to better prevent overweight in the carriers of the above variant.
Objectives Empirical determination of phenylalanine (Phe) tolerance in patients with phenylketonuria (PKU) relies on frequent assessment of blood Phe concentrations in relation to Phe intake from detailed meal records. This study aimed to determine Phe tolerance in twin pregnancies. Methods The reviewed cases included three women with PKU who each had a singleton and twin pregnancy (i.e., they were pregnant twice). All patients were under regular supervision to maintain Phe concentrations in a steady state and determine safe Phe intake. Restriction of Phe in the patient’s diet was determined depending on the amount of Phe intake, which allowed for stable blood Phe concentrations within the target range. Results In all three patients with PKU, the ratio of Phe tolerance during the course of the twin and singleton pregnancies was <1 for most of the pregnancy. The ratio of the increase in Phe tolerance between 29 and 34 weeks of gestation and that between 15 and 28 weeks of gestation was 0.66 and 1.17, 0.51 and 0.14, and 0.76 and 1.42 in the twin and singleton pairs of pregnancies, respectively. Conclusions Our study shows that Phe tolerance in a twin pregnancy is not greater than that in a singleton pregnancy.
Wstęp: Dieta niskofenyloalaninowa oparta na pozbawionym fenyloalaniny preparacie aminokwasowym oraz specjalistycznej żywności niskobiałkowej z ograniczoną zawartością fenyloalaniny stanowi główną metodę leczenia klasycznej postaci fenyloketonurii (phenylketonuria-PKU). Wysokie koszty diety są jednym z najczęstszych codziennych problemów zgłaszanych przez chorych na PKU i ich opiekunów. Cel pracy: Celem pracy było porównanie modelowych dobowych jadłospisów i ich kosztów u dzieci chorych na PKU, na różnych etapach rozwoju, z dietą rówieśników bez żadnych restrykcji żywieniowych. Materiał i metody: Do analizy kosztów wykorzystano modelowe jadłospisy, przy czym wyzwanie stanowiło stworzenie podobnych typów posiłków dla dzieci zdrowych i chorych na PKU ze względu na ograniczenia narzucane przez chorobę. Wyniki: Jadłospisy dla dzieci chorych na PKU wykorzystujące specjalistyczną żywność niskobiałkową były średnio droższe o 41,49% od menu dla dzieci na tradycyjnej zbilansowanej diecie. Najmniejszą procentową różnicę kosztów wykazały jadłospisy dla 17-letniego dziecka, a największą dla 10-latki, wyniosły one odpowiednio 30,05% i 51,57%. Różnica kosztów jadłospisów dla 3-latka wyniosła 42,85%. Wyniki przeprowadzonej analizy sugerują, że przestrzeganie założeń diety w PKU w celu utrzymania prawidłowych stężeń fenyloalaniny we krwi wiąże się z odczuwalnym obciążeniem finansowym dla pacjentów i ich opiekunów. Wnioski: Konieczne jest dokonanie pogłębionej analizy kosztów strategii terapeutycznej stosowanej w PKU i możliwości refundacji żywności niskobiałkowej. SŁOWA KLUCZOWE dieta w fenyloketonurii, PKU, dieta, koszty, trudności, refundacja kosztów.
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