Orphanet journal of rare diseases · 2026
Genetic landscape of phenylketonuria in Brazil.
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Tresbach Rafael Hencke, de Abreu Neto João Braga, Sperb-Ludwig Fernanda, Vieira Marta Wey, Costa Roseli Divino, Freitas Pedro Eduardo Bonfim, da Silva Luiz Carlos Santana, de Camargo Pinto Louise Lapagesse, Galera Marcial Francis, Cunha Keyla Christy Christine Mendes Sampaio, de Souza Cezar Antonio Abreu, Januário José Nélio, Aguiar Marcos José Burle, Heredia Romina Soledad, da Silva Rosa Maria Teresa Alves, Poubel Monique Oliveira, Maillot François, Schwartz Ida Vanessa Doederlein
Аннотация
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.