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Heavy Metal and Trace Element Status and Dietary Determinants in Children with Phenylketonuria.
Nutrients
October 2024
Department of Vaccine Technology, Vaccine Institute, Hacettepe University, 06230 Ankara, Türkiye.
Heavy metals are a group of metals and metalloids that have a relatively high density. They can cause toxicity even at very low levels. Trace elements are required by all living organisms to maintain their normal growth, metabolism, and development.
View Article and Find Full Text PDFEvaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria.
Nutrients
October 2024
Division of Nutrition and Metabolism, Istanbul Faculty of Medicine, Children's Hospital, Istanbul University, 34093 Istanbul, Turkey.
Article Synopsis
- Phenylketonuria (PKU) is a genetic metabolic disorder requiring a strict, low-phenylalanine diet, which sometimes leads to a risk of an unbalanced diet and obesity.
- A study of 37 adult PKU patients showed they did not have higher rates of overweight or obesity compared to healthy controls, but their carbohydrate intake was low, and energy intake was below recommended levels.
- Those with poor adherence to treatment (>50%) had higher rates of overweight and abdominal obesity, indicating the need for regular monitoring, especially for patients with low compliance.
Nutrient Status and Intakes of Adults with Phenylketonuria.
Nutrients
August 2024
Unit for Diagnosis and Treatment of Congenital Metabolic Disorders, University Clinical Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.
A phenylalanine-restricted diet, supplemented with protein substitutes (PSs), remains the cornerstone of phenylketonuria (PKU) management. However, adherence is challenging in adulthood, and data on the nutritional status of early and continuously treated adults with PKU (ETAwPKU) are scarce. A total of 34 ETAwPKU (16 females; mean ± SD, age: 28 ± 9 years, phenylalanine concentration: 847 ± 285 µmol/L) and 34 age- and sex-matched control subjects were compared regarding their blood nutrient status, self-reported dietary intake, and cognitive wellbeing.
View Article and Find Full Text PDFPhenylketonuria from the perspectives of patients in Türkiye.
Orphanet J Rare Dis
February 2024
Food and Drug Department, Parma University, Parma, Italy.
Background: The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and implementations on PKU.
Methods: The study included patients diagnosed with PKU and/or their parents. They were informed about the study via phone calls and their verbal consents were obtained.
Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy.
Mol Genet Metab
November 2023
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. Electronic address:
Background: Phenylalanine (Phe)-restricted diet is associated with lower quality of life for patients with phenylketonuria (PKU), and a concern for caregivers of recently-diagnosed infants. Sapropterin is an oral drug used as an alternative or adjunct to dietary treatment. We have observed that some of the young infants initially managed successfully with sapropterin monotherapy have required dietary treatment in long-term follow-up.
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