Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients

• Published in: Journal of inborn errors of metabolism and screening 2018-08, Vol.6, p.232640981878890
• Main Authors: Poloni, Soraia, Hoss, Giovana W., Sperb-Ludwig, Fernanda, Borsatto, Taciane, Doriqui, Maria Juliana R., Leão, Emília K.E.A, Boa-Sorte, Ney, Lourenço, Charles M., Kim, Chong A., de Souza, Carolina F. M., Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., D’Almeida, Vânia, Santana-da-Silva, Luiz C., Blom, Henk J., Schwartz, Ida V. D.
• Format: Article
• Language: English
• ISSN: 2326-4098; 2326-4594
• DOI: 10.1177/2326409818788900

This 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