Evidence map›Paper›PMID 40491588›Full record

ArticleFrontiers in nutrition2025

Are protein substitutes available in Italy for infants with inherited metabolic diseases all the same?

Margherita Di Costanzo, Martina Tosi, Martina Muzi, Enrico Vito Buono, Valentina D'Onghia, Anna Munerati, Gabriele Tarditi, Simone Bruni, Elvira Verduci, Giacomo Biasucci

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Article in Frontiers in nutrition, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Margherita Di Costanzo *Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy.
Martina Tosi *Department of Health Sciences, University of Milan, Milan, Italy.
Martina MuziPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Enrico Vito BuonoPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Valentina D'OnghiaPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Anna MuneratiPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Gabriele TarditiPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Simone BruniPediatric Clinic, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Elvira VerduciDepartment of Health Sciences, University of Milan, Milan, Italy.
Giacomo BiasucciPediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, Piacenza, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Inherited metabolic diseases (IMDs) represent a major clinical challenge, especially during the neonatal and infant periods. They require tailored and long-term nutritional management to ensure proper growth and development. Protein substitutes are essential in the dietary treatment of IMDs, particularly aminoacidopathies, organic acidemias, and urea cycle disorders. In Italy, a variety of PSs is available for infants with IMDs requiring a controlled protein and/or amino acid intake; however, differences in their nutritional composition may impact clinical outcomes. This study aims to examine and compare the nutritional composition of infant PSs (IPSs) available on the Italian market, focusing on macronutrients, micronutrients, and functional components. Methods: The analysis targets products used in the dietary management of aminoacidopathies, organic acidemias, and urea cycle disorders during the first year of life. We compared the nutritional composition of products intended for healthy infants, considering the Commission Delegated Regulation (EU) 2016/127 and Commission Delegated Regulation (EU) 2016/128. Phenylketonuria is excluded from this analysis, as it has been recently addressed in another paper. Results: For each condition, there are only two products available, except for isovaleric aciduria and urea cycle disorders, which have only one product. The results indicate higher energy, linoleic, and alpha-linolenic acid content (+9%, +55%, and +290% compared to the maximum reference value), and lower levels of lactose, vitamin D, choline, selenium, and iodine (-92%, -34%, -37%, -12%, and -39% compared to the minimum reference value) for several IPSs. The analysis revealed the presence of docosahexaenoic acid (DHA), and eicosapentaenoic acid (EPA) in all IPSs, while half of them contain arachidonic acid (ARA). Discussion: This study represents the first comprehensive comparison of the nutritional profiles of IPSs for IMDs on the Italian market. The results identify potential areas for optimization, aiming to provide adequate levels of micronutrients, essential fatty acids, and functional ingredients, such as biotics, to support gut health, immune function, and neurodevelopment.

Indexed as

classic homocystinuriaglutaric aciduria type 1infant nutritioninherited metabolic diseasesmaple syrup urine diseaseorganic acidemiasprotein substitutestyrosinemia

Identifiers

PMID40491588
PMCPMC12146189

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