A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria

Nadia Giarratana,Andrea Canobbio,Valentina Panzeri,Giorgio Reiner,Guglielmo Gallina,Alessandra Frangi

doi:10.1177/2326409818783780

Nadia Giarratana, Andrea Canobbio + Show 4 more

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https://doi.org/10.1177/2326409818783780

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Abstract

An innovative technology (Physiomimic Technology) has been applied to amino acids (AAs) formulated for patients with phenylketonuria, with the objective of masking AA taste and odor and prolonging ...

Highlights

Background and AimPhenylketonuria (PKU)[1] is a rare inborn error of metabolism causing, in uncontrolled newborn and young children, phenylalanine (Phe) accumulation in blood and brain,[2,3] where Phe neurotoxic effects lead to progressive, irreversible intellectual impairment and other important consequences including seizures and motor deficits.[4]Nowadays, the majority of patients, thanks to the adoption of newborn screening programs, are identified at birth and are counseled to follow long-term or lifetime dietary protein restrictions in order to maintain Phe blood levels within the recommended ranges
Sodium alginate is used as a granulating agent, while ethylcellulose and glyceryl dibehenate are coating agents chosen, among those allowed for medical foods, for their performance in prolonging the release of the amino acids (AAs) up to the desired extent
The 2 engineered mixes were compared with the same AA mix consisting of free AAs without the application of the Physiomimic Technology (n-engP)

Summary

Introduction

Phenylketonuria (PKU)[1] is a rare inborn error of metabolism causing, in uncontrolled newborn and young children, phenylalanine (Phe) accumulation in blood and brain,[2,3] where Phe neurotoxic effects lead to progressive, irreversible intellectual impairment and other important consequences including seizures and motor deficits.[4]. The majority of patients, thanks to the adoption of newborn screening programs, are identified at birth and are counseled to follow long-term or lifetime dietary protein restrictions in order to maintain Phe blood levels within the recommended ranges. Phe-free protein substitutes, compensating a reduced protein intake from natural sources, represent a fundamental part of the diet.[5] Maintenance of Phe levels within recommended range highly contributes to prevention of the major severe deficits associated with Phe accumulation.

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