Orphanet Journal of Rare Diseases · Published 2026-07-09 · DOI 10.1186/s13023-026-04435-x
Rafael Hencke Tresbach, João Braga de Abreu Neto, Fernanda Sperb-Ludwig, Marta Wey Vieira, Roseli Divino Costa, Pedro Eduardo Bonfim Freitas, Luiz Carlos Santana da Silva, Louise Lapagesse de Camargo Pinto, Marcial Francis Galera, Keyla Christy Christine Mendes Samp Cunha, Cezar Antonio Abreu de Souza, José Nélio Januário, Marcos José Burle Aguiar, Romina Soledad Heredia, Maria Teresa Alves da Silva Rosa, Monique Oliveira Poubel, François Maillot, Ida Vanessa Doederlein Schwartz
Abstract Phenylketonuria (PKU), one of the most common inherited metabolic disorders, is caused by biallelic loss-of-function variants in the phenylalanine hydroxylase (PAH) gene. More than 1000 pathogenic variants have been described in this gene. Although genotype-phenotype correlations are imperfect, PAH genotypes can influence treatment decision-making. To better characterize the genetic landscape of PKU in Brazil, we compiled a dataset of PAH genotypes from 742 patients by combining data from the literature (n = 486), public databases (n = 117), and direct physician reports (n = 139). Most patients were classified as having classical PKU (n = 455/742; 61.3%). The most prevalent variants were c.1162G > A (16.6%), c.1066-11G > A (13.9%), and c.782G > A (11.8%), which are also the predominant ones in Portugal, Spain, and Latin America. This study confirms the allelic heterogeneity of PKU in the Brazilian population and provide relevant insights to support public health policies for this disorder.
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Tresbach, R., Neto, J., Sperb-Ludwig, F., et al. (2026). Genetic landscape of phenylketonuria in Brazil. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/s13023-026-04435-x