Dataset Information

Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.

ABSTRACT: The nutritional and metabolic characteristics of adult phenylketonuria (PKU) patients in the UK with varying dietary adherence is unknown. In other countries, nutritional and metabolic abnormalities have been reported in nonadherent patients compared to adherent counterparts. A pooled analysis of primary baseline data from two UK multi-centre studies was therefore performed to establish whether this is true from a UK perspective. Adult PKU patients who had provided 3-day food records and amino acid blood samples were included and grouped according to dietary adherence (adherent; n = 16 vs. nonadherent; n = 14). Nonadherent patients consumed greater amounts of natural protein compared to adherent patients (61.6 ± 30.7 vs. 18.3 ± 7.7 g/day; q < 0.001). In contrast, the contribution of protein substitutes to total protein intake was lower in nonadherent compared to adherent patients (3.9 ± 9.2 g/day vs. 58.6 ± 10.2 g/day; q < 0.001). Intakes of iron, zinc, vitamin D3, magnesium, calcium, selenium, iodine, vitamin C, vitamin A and copper were significantly lower in nonadherent compared to adherent patients and were below UK Reference Nutrient Intakes. Similarly, intakes of thiamin, riboflavin, niacin, vitamin B6 and phosphorus were significantly lower in nonadherent compared to adherent patients but met the UK Reference Nutrient Intakes. Phenylalanine concentrations in nonadherent patients were significantly higher than adherent patients (861 ± 348 vs. 464 ± 196 µmol/L; q=0.040) and fell outside of European treatment target ranges. This study shows the nutritional and metabolic consequences of deviation from phenylalanine restriction and intake of PKU protein substitutes in nonadherent adult PKU patients. Collectively, these data further underlie the importance of life-long adherence to the PKU diet.

SUBMITTER: Green B

PROVIDER: S-EPMC6835765 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.

Green Benjamin B Browne Robert R Firman Sarah S Hill Melanie M Rahman Yusof Y Kaalund Hansen Kit K Adam Sarah S Skeath Rachel R Hallam Paula P Herlihy Ide I Jenkinson Fiona F Nicol Claire C Adams Sandra S Gaff Lisa L Donald Sarah S Dawson Charlotte C Robertson Louise L Fitzachary Carla C Chan Heidi H Slabbert Arlene A Dunlop Carolyn C Cozens Alison A Newby Camille C Bittle Victoria V Hubbard Gary G Stratton Rebecca R

Nutrients 20191014 10

The nutritional and metabolic characteristics of adult phenylketonuria (PKU) patients in the UK with varying dietary adherence is unknown. In other countries, nutritional and metabolic abnormalities have been reported in nonadherent patients compared to adherent counterparts. A pooled analysis of primary baseline data from two UK multi-centre studies was therefore performed to establish whether this is true from a UK perspective. Adult PKU patients who had provided 3-day food records and amino a ...[more]

PMID: 31615158

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Project description:Protein-energy wasting (PEW) is considered one of the major complications of chronic kidney disease (CKD), particularly in dialysis patients. Insufficient energy and protein intake, together with clinical complications, may contribute to the onset and severity of PEW. Therefore, the aim of the study was to analyze the differences in nutritional and hydration status and dietary intake among Dalmatian dialysis patients. Fifty-five hemodialysis (HD) and twenty peritoneal dialysis (PD) participants were included. For each study participant, data about body composition, anthropometric, laboratory, and clinical parameters were obtained. The Malnutrition Inflammation Score (MIS) and two separate 24-h dietary recalls were used to assess nutritional status and dietary intake. The Nutrient Adequacy Ratio (NAR) and Mean Adequacy Ratio (MAR) were calculated to compare actual dietary intake with recommended intake. Additionally, the estimated 10-year survival was calculated using the Charlson Comorbidity Index. The prevalence of malnutrition according to MIS was 47.3% in HD and 45% in PD participants. Significant differences in fat tissue parameters were found between HD and PD participants, whereas significant differences in hydration status and muscle mass parameters were not found. A significant difference in NAR between HD and PD participants was noticed for potassium and phosphorus intake, but not for MAR. MIS correlated negatively with anthropometric parameters, fat mass, visceral fat level and trunk fat mass, and iron and uric acid in HD participants, whereas no significant correlations were found in PD participants. The estimated 10-year survival correlated with several parameters of nutritional status in HD and PD participants, as well as nutrient intake in HD participants. These results indicate a high prevalence of malnutrition and inadequate dietary intake in the Dalmatian dialysis population which, furthermore, highlights the urgent need for individualized and structural nutritional support.

Project description:BackgroundPatients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA). Long-chain saturated fatty acids are substrates of mitochondrial fatty acid oxidation for acetyl-CoA production. LC-PUFA are discussed to affect inflammatory and haemostaseological processes in health and disease. The influence of the long term PKU diet on fatty acid metabolism with a special focus on platelet eicosanoid metabolism has been investigated in the study presented here.Methodology/principal findings12 children with PKU under good metabolic control and 8 healthy controls were included. Activated fatty acids (acylcarnitines C6-C18) in dried blood and the cholesterol metabolism in serum were analyzed by liquid chromatographic tandem mass spectrometry (LC-MS/MS). Fatty acid composition of plasma glycerophospholipids was determined by gas chromatography. LC-PUFA metabolites were analyzed in supernatants by LC-MS/MS before and after platelet activation and aggregation using a standardized protocol. Patients with PKU had significantly lower free carnitine and lower activated fatty acids in dried blood compared to controls. Phytosterols as marker of cholesterol (re-) absorption were not influenced by the dietary fatty acid restriction. Fatty acid composition in glycerophospholipids was comparable to that of healthy controls. However, patients with PKU showed significantly increased concentrations of y-linolenic acid (C18:3n-6) a precursor of arachidonic acid. In the PKU patients significantly higher platelet counts were observed. After activation with collagen platelet aggregation and thromboxane B(2) and thromboxane B(3) release did not differ from that of healthy controls.Conclusion/significanceLong-term dietary fatty acid restriction influenced the intermediates of mitochondrial beta-oxidation. No functional influence on unsaturated fatty acid metabolism and platelet aggregation in patients with PKU was detected.

Dataset Information

Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.

Publications

Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.

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