Phenylketonuria in Brazil: a narrative review on treatment and public policies regarding patient and family demands

Abstract Phenylketonuria (PKU) is an autosomal recessive disorder that affects phenylalanine metabolism and, if left untreated, leads to severe intellectual disability, behavioral problems, cognitive impairments, and other dysfunctions. This study aimed to assess the clinical and social aspects of P...

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Hlavní autoři:	Daniele Cristina da Silva Napoli, Kaciane Andreola, Maria Teresa Bertoldo Pacheco
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Instituto de Tecnologia de Alimentos (ITAL) 2026-05-01
Edice:	Brazilian Journal of Food Technology
Témata:	Neonatal screening Phenylketonuria treatment Tetrahydrobiopterin Phenylalanine ammonia-lyase Protein restriction Phenylalanine
On-line přístup:	http://www.scielo.br/pdf/bjft/v29/1981-6723-bjft-29-e2025055.pdf
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