2019-03-262019-03-262019-02POLONI, Soraia et al. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients. Journal of Inborn Errors of Metabolism and Screening, Porto Alegre, v. 6, e180007, 2018. DOI: http://dx.doi.org/10.1177/2326409818788900. Disponível em: http://repositorio.ufpa.br/jspui/handle/2011/10788. Acesso em:.2326-4594https://repositorio.ufpa.br/handle/2011/10788This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.Acesso AbertoClassical homocystinuriaCBS deficiencyHomocysteinePyridoxine responsivenessDiagnosisArtigo de Periódicohttp://dx.doi.org/10.1177/2326409818788900