http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria
Duygu Ağagündüz,Fatma Nur Keskin,Teslime Özge Şahin,Raffaele Capasso 대한소아청소년과학회 2023 Clinical and Experimental Pediatrics (CEP) Vol.66 No.8
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.