Total Protein Intake in Patients with PKU: Adequacy Evaluation According to the European PKU Guidelines from 2017.

In PKU, the protein requirements are contentious. In 2018, we evaluated the protein intake in patients with PKU. Ninety-nine early treated patients aged 19.

Predicting factors of neurodevelopmental performance in children with phenylketonuria.

In phenylketonuria (PKU), high phenylalanine (Phe) levels hamper neurodevelopment impairing executive function later in life. While the second has been more studied, fewer data exist on predictors of PKU patients' development in specific populations. To contribute to the field, we performed a retrospective analysis of predictors of neurodevelopment in PKU patients in a Portuguese cohort.

Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.

Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017.

Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.

Background: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15-43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed].

Dietary practices in methylmalonic acidaemia: a European survey.

Background The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability. Aim To describe the dietary management of patients with MMA across Europe.

The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.

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.

A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.

Background Phenylketonuria (PKU), a rare, inherited metabolic condition, is treated with a strict low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitute. The optimal nutritional management of a sporting individual with PKU has not been described. Therefore, guidelines for the general athlete have to be adapted.

Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.

Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in patients aged ≥12 years. Patients ≥12 years of age with PKU were systematically challenged with additional natural protein (NP) if blood Phe levels remained below 480 µmol/L (i.e.

A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management.

Pinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr 2017; 59: 189-192.

Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile.

Background: Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight European countries and Turkey and 2) analyse the nutritional composition of SLPF available in one of these countries.

Methods: European Nutritionist Expert Panel on PKU (ENEP) members (Portugal, Spain, Belgium, Italy, Germany, Netherlands, UK, Denmark and Turkey) provided data on SPLF available in each country.

Anthropometric changes in the Brazilian cohort of older adults: SABE survey (health, well-being, and aging).

The aim of the present study was to analyze the anthropometric changes in a home-based cohort of Brazilian older adults who participated in the SABE Survey, conducted in 2000 and 2006. A total of 1030 men and women were examined by age group: 60-69, 70-79, and ≥80 years. This representative sample consists of the survivors of the 2000 cohort.

The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patients.

Background/aims: The neurological sequelae resulting from untreated phenylketonuria are diminished by the success of early introduced and continued dietary treatment. Nowadays, nutritional status is gaining importance in the follow-up of these patients. The aim of this work was to study the relevance of prealbumin concentration as biomarker of protein nutritional status of phenylketonuric patients.