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Background/objectives: Low phenylalanine (PHE), glycomacropeptide-based protein substitute (GMP) is an alternative to traditional L-amino acid supplements (AA) used in the dietary management of phenylketonuria (PKU). In a retrospective, longitudinal study, we report the nutritional status of PKU patients taking AA and GMP.Subjects/methods: Eleven PKU patients aged 27±10 years (1 HPA, 4 mild and 6 classical PKU) on dietary treatment were evaluated (anthropometry, body composition, blood pressure measurements, biochemical markers including vitamin, mineral, lipids, carbohydrates and protein status/metabolism, and nutritional intake assessment) at two different annual reviews. The mean time taking AA was 13±5 months and GMP 13±7 months. Blood phenylalanine (PHE) and tyrosine (TYR) were analysed before and after GMP introduction.Results: Both GMP and AA protein substitutes provided similar protein equivalent intake (0.85 vs 0.75 g/kg/day, P=0.182). In the GMP group, it contributed 57% (27-100%) of the protein substitute intake (with AA delivering the rest of protein substitute intake), providing an additional 34±12 mg/day PHE. Nutritional intake, anthropometry and body composition measurements were similar in both the groups. Median blood PHE did not change (P=0.594), although values within target range improved (36 vs 46%), but this was not statistically significant. Mean blood TYR increased (52.0±19.2 vs 63.2±25.6 μmol/l, P=0.033), and all biochemical markers remained stable, except for a lower A1C haemoglobin (P=0.011).Conclusions: Partial GMP contribution to total protein substitute intake did not affect nutritional status in patients with PKU. Blood PHE control was not adversely affected. The increased blood TYR after GMP introduction necessitates further study. [ABSTRACT FROM AUTHOR]

Background Phenylketonuria (PKU) management practices differ between and within countries. In 2007, the Portuguese Society for Metabolic Disorders (SPDM) approved the Portuguese Consensus (PC) for the nutritional treatment of PKU. The recently published European PKU Guidelines (EPG, 2017) systematically reviewed recent evidence and aimed to harmonise treatment protocols in Europe. The objective of this study was to appraise the EPG acceptance and implementation in Portuguese treatment centres. Methods An electronic questionnaire was prepared and the link was sent to 135 SPDM members. It outlined the 10 EPG key recommendations and compared each statement with the consensus recommendations published by SPDM. Responses were recorded and descriptive analyses were performed. Results Twenty-five professionals completed the questionnaire, and over half (56%) were nutritionists/dieticians. At least one questionnaire from each of the 10 national treatment centres was returned. In general, responders accepted most of the recommendations. However, only the recommendation about target phenylalanine (Phe) concentrations between 120 and 360 μmol/L for patients <12 years received 100% consensus with a further seven recommendations gaining over 70% consensus. Almost half of the professionals (48%, n = 12) required further discussion about the EPG-safe upper target blood Phe concentration (600 μmol/L) suggested for patients aged ≥12 years. Almost one third (32%, n = 8) failed to agree with the recommendation in the EPG-proposed classification of Phe hydroxylase (PAH) deficiency. Conclusions The EPG received overall good acceptance, but there was divided opinion about some recommendations which require further discussion before implementation by the Portuguese treatment centres.

Background/Aims: Fatty acid (FA) composition varies over the course of the day and during lactation. The aim of this study was to evaluate FA composition and its compositional stability in human milk, from day 7 to week 16 of lactation. Methods: Human milk was collected from all feedings over 24 h at day 7 and weeks 4, 8, 12 and 16 of lactation in 31 lactating women. FAs were analyzed through gas chromatography. Comparisons were made with analysis of variance. Results: Total monounsaturated FAs decreased from 33.04 ± 2.58% wt/wt at day 7 to 31.48 ± 3.32% wt/wt at week 16 of lactation, much at the expenses of the decrease in the major monounsaturated FA found in human milk, oleic acid. Main polyunsaturated FAs n-6 and n-3 showed fluctuations from day 7 up to week 16 of lactation, but with no statistical significance. Arachidonic acid significantly decreased from transitional to mature milk. Conclusions: The FA profile obtained throughout the study time points presented very low levels of oleic acid and very high linoleic acid/α-linoleic acid ratios which reflect recent changes in Portuguese women’s food patterns. Despite this, the ascorbate/dehydroascorbate ratio remained constant during the study, suggesting a protective metabolic mechanism. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background: Adults and children in Mediterranean countries are believed to consume a Mediterranean-type diet which is higher in monounsaturated and n–3 polyunsaturated fatty acids than compared to central and northern parts of Europe and has preventive effects for cardiovascular risks. Subjects and Methods: In preschool children from Porto, Portugal (n = 35) and Munich, Germany (n = 18) we determined the plasma phospholipid fatty acid composition considered as a biomarker for dietary fat intake. Results: The plasma phospholipid contents of total saturated fatty acids are similar in both groups, but the Portuguese children have lower values of monounsaturated and n–3 polyunsaturated fatty acids. The results indicate that the food habits of Portuguese children are even less close to the traditional Mediterranean diet than those of German children. Conclusions: Efforts should be made to encourage young families as well as manufacturers and distributors of food products in Portugal to emphasize traditional Mediterranean food habits, especially in young children.Copyright © 2001 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]