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Review Article
Nutrition
Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria
Fatma Nur Keskin, Teslime Özge Şahin, Raffaele Capasso, Duygu Ağagündüz
Clin Exp Pediatr. 2023;66(8):320-331.   Published online November 1, 2022
Phenylketonuria, an autosomal recessive disease that results from the inability to metabolize phenylalanine, is currently treated with medical nutrition therapy. New treatment approaches such as tetrahydrobiopterin, glycomacropeptide, large neutral amino acids, pegvaliase, and gene therapy significantly impact disease management and dietary enrichment. This article also reviews animal and human studies that have evaluated the efficacy and safety of these new protein substitutes.
Case Report
A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2008;51(5):546-550.   Published online May 15, 2008
In this untreated classic phenylketonuria (PKU) case, mental retardation is severe; however, there have been individuals­like the mother of this case­who have escaped mental retardation and all the other potential sequelae of phenylketonuria, despite having high blood phenylalanine levels, and very poor dietary control. It appears that they have nearly normal brain phenylalanine levels despite high blood phenylalanine (Phe) levels....
Two Cases of Tetrahydrobiopterin Deficiency
Jee Won Choi, Sei Won Yang, Hyung Ro Moon, Se Chin Cho
Clin Exp Pediatr. 1995;38(3):397-403.   Published online March 15, 1995
Tetrahydrobiopterin(BH4) deficiency is a rare type of hyperphenylalaninemia and usually leads to a progressive neurologic deterioration despite early dietary control of blood phenylalanine concentration. We experienced two cases of BH4 deficiency in brother and sister, confirmed by biochemical study of blood and urine. They had suffered from a progressive neurologic illness such as mental retardation, severe hypotonia, seizure, and athetotic movements...
Original Article
Pterin & DHPR Measurement and DNA Analysis in Korean PKU Patients
Chol Hee Chong, Hye Yong Lee, Dong Hwan Lee, Sang Jhoo Lee, Ki Weon Cha, Jeong Bin Yim, Yoshiyuki Okano
Clin Exp Pediatr. 1993;36(12):1681-1690.   Published online December 15, 1993
Phenylketonuria in metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa...
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