Abstract
Phenylketonuria (PKU) is a rare autosomal recessive inborn error of metabolism where the mainstay of treatment is a Phe restricted diet consisting of a combination of limited amounts of natural protein with supplementation of Phe-free or low-Phe protein substitutes and special low protein foods. Suboptimal outcomes may be related to the different absorption kinetics of free AAs, which have lower biological efficacy than natural proteins. Physiomimic TechnologyTM is a technology engineered to prolong AA (AA-PT) release allowing physiological absorption and masking the odor and taste of free AAs. The aim of these studies was to assess the impact of AA-PT formulation on selected functional and metabolic parameters both in acute and long-term experimental studies. Adult rats in fasting conditions were randomized in different groups and treated by oral gavage. Acute AA-PT administration resulted in significantly lower BUN at 90 min versus baseline. Both BUN and glycemia were modulated in the same direction as intact casein protein. Long-term treatment with AA-PT significantly reduces the protein expression of the muscle degradation marker Bnip3L (−46%) while significantly increasing the proliferation of market myostatin (+58%). Animals dosed for 15 days with AA-PT had significantly stronger grip strength (+30%) versus baseline. In conclusion, the results suggest that the AA-PT formulation may have beneficial effects on both AA oxidation and catabolism with a direct impact on muscle as well as on other metabolic pathways.
Highlights
Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal
Introduction with regard to jurisdictional claims in Phenylketonuria (PKU) is a rare autosomal recessive inborn error of metabolism where a phenylalanine hydroxylase (PAH) deficiency leads to the accumulation of amino acid phenylalanine (Phe) in the blood and brain
Improvements were observed in recent years regarding the delivery and compositions of protein substitutes, suboptimal outcomes are still reported in the literature, probably reflecting non-perfect compliance and as a potential consequence of their chronic metabolic implications [5,6,7,8]
Summary
Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário de Lisboa Central, Rua Jacinta Marto, 1169-045 Lisboa, Portugal. Phenylketonuria (PKU) is a rare autosomal recessive inborn error of metabolism where the mainstay of treatment is a Phe restricted diet consisting of a combination of limited amounts of natural protein with supplementation of Phe-free or low-Phe protein substitutes and special low protein foods. Acute AA-PT administration resulted in significantly lower BUN at 90 min versus baseline. Both BUN and glycemia were modulated in the same direction as intact casein protein. A Phe restricted diet composed of a few natural proteins combined with protein substitutes, Phe-free L-amino acid mixtures and special low protein foods, remains the mainstay of treatment for life [3,4]. Improvements were observed in recent years regarding the delivery and compositions of protein substitutes, suboptimal outcomes are still reported in the literature, probably reflecting non-perfect compliance and as a potential consequence of their chronic metabolic implications [5,6,7,8]
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