Background: There is an increasing number of adults with phenylketonuria (PKU) on a low phenylalanine diet. In the general population, an increasing body mass index (BMI) in the UK is a major problem with associated co-morbidities. The present study aimed to identify whether patients with diet-treated PKU have obesity rates comparable to those in the general population. Methods: Two hundred and thirty-six PKU subjects (49% male, 51% female), aged >16 years, who were diagnosed by newborn screening and were receiving a low phenylalanine diet, were identified from seven metabolic centres in the UK. Retrospective data were collated on age, sex, BMI and mean phenylalanine concentration over the previous 12 months. Results: Mean (SD) phenylalanine concentration for all 236 subjects was 789 (311) lM; mean (SD) BMI was 26 (5.4) kg m À2 [males 25 (4.3) kg m À2 ,

The approach to adult patients with OA has to be multidisciplinary, with the clinician and dietician as the core of the team, but with the collaboration of clinical nurses specialists, social workers and other specialist services and the support of a biochemical and molecular laboratory.

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BackgroundIn Europe, dietary management of isovaleric acidemia (IVA) may vary widely. There is limited collective information about dietetic management.AimTo describe European practice regarding the dietary management of IVA, prior to the availability of the E-IMD IVA guidelines (E-IMD 2014).MethodsA cross-sectional questionnaire was sent to all European dietitians who were either members of the Society for the Study of Inborn Errors of Metabolism Dietitians Group (SSIEM-DG) or whom had responded to previous questionnaires on dietetic practice (n = 53). The questionnaire comprised 27 questions about the dietary management of IVA.ResultsInformation on 140 patients with IVA from 39 centres was reported. 133 patients (38 centres) were given a protein restricted diet. Leucine-free amino acid supplements (LFAA) were routinely used to supplement protein intake in 58% of centres. The median total protein intake prescribed achieved the WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Centres that prescribed LFAA had lower natural protein intakes in most age groups except 1 to 10 y. In contrast, when centres were not using LFAA, the median natural protein intake met WHO/FAO/UNU [2007] safe levels of protein intake in all age groups. Enteral tube feeding was rarely prescribed.ConclusionsThis survey demonstrates wide differences in dietary practice in the management of IVA across European centres. It provides unique dietary data collectively representing European practices in IVA which can be used as a foundation to compare dietary management changes as a consequence of the first E-IMD IVA guidelines availability.

In the UK, protein restriction based on World Health Organization 'safe intakes of protein', is the principle dietary treatment for UCD. EAA supplements are prescribed mainly on clinical need. Multicentre collaborative research is required to define optimal dietary treatments.