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KMID : 1161220230660080320
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Clinical and Experimental Pediatrics
2023 Volume.66 No. 8 p.320 ~ p.331
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Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria
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Fatma Nur Keskin
Teslime Ozge Sahin
Raffaele Capasso
Duygu Agagunduz
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Abstract
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Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalaninehydroxylase (PAH) gene on the 12th chromosome. DefectivePAH activity ultimately leads to increased phenylalanine (Phe)blood concentrations (hyperphenylalaninemia) that harm thebrain. The primary purpose of PKU treatment is to maintainthe blood Phe level to prevent certain undesired effects.
Hence, lifelong medical nutrition therapy is recommendedfor these patients. The usefulness of natural protein sourcesmay be limited, as they are based on individual Phe tolerance,and a patient’s daily protein requirements are supported byPhe-free amino acid mixtures. A few PKU treatment centersrecently started using supplemental casein glycomacropeptide,pegvaliase, or large neutral amino acids, and some patients aretreated by responding to tetrahydrobiopterin, which works asa pharmaceutical chaperone (prescribed as sapropterin dihydrochloride). This review discusses the efficacy and safetyconsiderations of basic medical nutrition approaches and newgeneration protein substitutes that are used to treat PKU.
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KEYWORD
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Protein substitutes, Phenylalanine-restricted diet, Phenylketonuria, Pharmanutrition
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