Are Phe-Free Protein Substitutes Available in Italy for Infants with PKU All the Same?

Breastfeeding or standard infant formulas, alongside phenylalanine (Phe)-free protein substitutes, constitute the dietary management for infants with PKU to guarantee protein requirements are met in compliance with metabolic tolerance. This work aims to analyse the nutritional composition of Phe-free infant protein substitutes, in terms of macronutrients, micronutrients and functional components, available for PKU dietary management in Italy. A total of seven infant Phe-free protein substitutes were included in this review, six powder and one liquid.

Quality of life aspects of a low protein diet using GMP in patients with phenylketonuria.

Objective: To assess some quality of life (QOL) aspects of a low protein diet, using glycomacropeptide (GMP) as a protein substitute in patients with phenylketonuria (PKU).

Methods: This was a multicentre, prospective observational cohort, study. Metabolic control, nutritional parameters, and dietary adherence were assessed in patients with PKU before (T0), and six months after (T6) starting a low protein diet using GMP.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020.

Italian national consensus statement on management and pharmacological treatment of phenylketonuria.

Background: Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment causes phenylalanine accumulation in the blood and brain, with a broad spectrum of pathophysiological and neurological consequences for patients. Prevalence of disease varies, with peaks in some regions and countries, including Italy.

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.

Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic defects. In this context, among the established factors influencing the metabolic flux, i.e.

Creatine Levels in Patients with Phenylketonuria and Mild Hyperphenylalaninemia: A Pilot Study.

Background: Creatine (Cr) levels are strongly dependent on diets, including animal-derived proteins. Cr is an important metabolite as it represents a source of stored energy to support physical performance and potentially sustain positive effects such as improving memory or intelligence. This study was planned to assess Cr levels in PKU children adhering to a diet low in phenylalanine (Phe) content and compared with those of children with mild hyperphenylalaninemia (MHP) on a free diet.

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.

Background: Although children with special health care needs (CSHCN) represent a minority of the population, they go through more hospitalizations, more admissions to the Emergency Department (ED), and receive a major number of medical prescriptions, in comparison to general pediatric population. Objectives of the study were to determine the reasons for admission to the ED in Italian CSHCN, and to describe the association between patient's demographic data, clinical history, and health services requirements.

Methods: Ad hoc web site was created to collect retrospective data of 3479 visits of CSHCN to the ED in 58 Italian Hospitals.

The management of phenylketonuria in adult patients in Italy: a survey of six specialist metabolic centers.

Introduction: Phenylketonuria (PKU) is a rare autosomal recessive disorder caused by a deficiency of phenylalanine hydroxylase (PAH). Its prevalence is estimated to be 1:10,000 in Europe. PKU is the commonest congenital inborn error of metabolism.

Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review.

The composition and functioning of the gut microbiota, the complex population of microorganisms residing in the intestine, is strongly affected by endogenous and exogenous factors, among which diet is key. Important perturbations of the microbiota have been observed to contribute to disease risk, as in the case of neurological disorders, inflammatory bowel disease, obesity, diabetes, cardiovascular disease, among others. Although mechanisms are not fully clarified, nutrients interacting with the microbiota are thought to affect host metabolism, immune response or disrupt the protective functions of the intestinal barrier.

Neonatal malpractice claims in Italy: how big is the problem and which are the causes?

Medical errors are topics of increasing importance in neonatology. Very few data are available on neonatal malpractice claims. We report the first data obtained in Italy on neonatology regarding a wide population study during a 6-year survey.