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.
Słowa kluczowe: dieta bezglutenowa, autyzm, nietolerancja pokarmowa. Key words: gluten-free diet, autism, food intolerance.Adres do korespondencji: dr n. med. Kamil K. Hozyasz, Klinika Pediatrii, Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, tel. +48 22 327 72 68, e-mail: kamil.hozyasz@imid.med.pl Artykuł poglądowy/Review paper StreszczeniePo poradę dotyczącą diety bezglutenowej zgłaszają się zazwyczaj chorzy z zaburzeniami ze spektrum autyzmu (autistic spectrum disorders -ASD), należący do dwóch grup. Większość stanowią młodsze dzieci z ASD i ich rodzice. Nieliczną grupą są wcześniej niezdiagnozowani nastolatkowie i młodzi dorośli z łagodnymi postaciami ASD, którzy wskutek własnych poszukiwań stwierdzili, że ich sprawność społeczna i kreatywność zwiększyła się po eliminacji glutenu z diety. Relacjonują oni bardzo dużą wrażliwość na niezamierzone błędy dietetyczne. W artykule przedstawiono zagadnienie stosowania diety bezglutenowej w ASD na podstawie najnowszych przeglądów piśmiennictwa oraz badań oryginalnych. Wyniki wieloletnich obserwacji pokazują, że u części osób z ASD eliminacja glutenu z diety może korzystnie wpły-wać na zaburzenia psychiczne. Bardzo zmienny wzorzec snu, częste ostre zmiany zachowania i epizody zwiększonej agresji, objawy nietolerancji pokarmów oraz pozytywne wyniki badań laboratoryjnych w kierunku alergii pokarmowej są wskazywane jako pomocne w identyfikacji chorych odnoszących korzyść z wprowadzenia diety bezglutenowej. Niezbędne są dalsze, prawidłowo zaplanowane badania w celu udokumentowania korzyści ze stosowania diety bezglutenowej u pacjentów z różnymi zaburzeniami ze spektrum autyzmu. AbstractThere are two groups of patients with autistic spectrum disorders (ASD) referred to clinicians for information about intervention with a gluten-free diet. The ASD children and their parents are the majority. Previously undiagnosed teenagers and young adults, who fulfil the criteria of a mild ASD and have experienced improvement in social interaction and general well-being after a self-administered gluten-free diet, are the small minority. We observed only a small number of patients (6 males) from the last group, who looked for explanation and laboratory confirmation of their gluten intolerance. They reported to be very sensitive to unintentional gluten consumption. This article provides a summary of current systematic reviews and original papers on the effects of a gluten-free diet in the treatment of ASD. Accumulating evidence suggests that in a portion of patients gluten may contribute significantly to autistic behaviour and should be eliminated from the diet. Irregular sleeping pattern, episodes of aggression and acute behavioural changes, biological food intolerance, and positive results of laboratory tests for food allergies are considered to be helpful in identifying responders to a gluten-free diet among children with ASD. Future investigations should use validated and reliable outcome measures to determine the benefits of a gluten-free diet in patients with different t...
BackgroundWomen with untreated phenylketonuria (PKU) are at an increased risk to have offspring with multiple abnormalities due to teratogenic effects of hyperphenylalaninaemia. Treatment goals include blood phenylalanine concentrations between 120 and 360 µmol/L, however, there are limited pieces of evidence for the practical management of pregnant PKU patient and prediction of phenylalanine tolerance changes during a course of pregnancy.CaseWe report the case of a mother with classical PKU (p.R408W/p.R408W) and the course of her two pregnancies with low phenylalanine tolerance increase (347mg and 227mg) despite the rewarding collaboration with a nutritionist.ConclusionThis case report does not confirm the observation that a very low phenylalanine tolerance increase in pregnancy of PKU patient is a marker of coexisting PKU-affection in fetus.
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