Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria

• Main Authors: Fatma Nur Keskin (Author), Teslime Özge Şahin (Author), Raffaele Capasso (Author), Duygu Ağagündüz (Author)
• Format: Book
• Published: The Korean Pediatric Society, 2023-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Phenylketonuria (PKU), an autosomal recessive inherited metabolic disorder, is caused by a mutation in the phenylalanine hydroxylase (PAH) gene on the 12th chromosome. Defective PAH activity ultimately leads to increased phenylalanine (Phe) blood concentrations (hyperphenylalaninemia) that harm the...