Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients

• Autor(a) principal: POLONI, Soraia
• Data de Publicação: 2019
• Outros Autores: HOSS, Giovana Regina Weber, SPERB-LUDWIG, Fernanda, BORSATTO, Taciane, RODOVALHO-DORIQUI, Maria Juliana, LEÃO, Emília Katiane Embiruçu de Araújo, BOA-SORTE, Ney Cristian Amaral, LOURENÇO, Charles Marques, AE KIM, Chong, ROCHA, Hélio Fernandes da, RIBEIRO, Márcia Goncalves, STEINER, Carlos Eduardo, MORENO, Carolina Araujo, BERNARDI, Pricila, VALADARES, Eugênia Ribeiro, ARTIGALÁS, Osvaldo Alfonso Pinto, CARVALHO, Gerson da Silva, WANDERLEY, Hector Yuri Conti, SILVA, Luiz Carlos Santana da, SCHWARTZ, Ida Vanessa Doederlein, SOUZA, Carolina Fischinger Moura de, D'ALMEIDA, Vânia, BLOM, Henk J.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UFPA
• Texto Completo: http://repositorio.ufpa.br/jspui/handle/2011/10788; http://dx.doi.org/10.1177/2326409818788900
• topic: Classical homocystinuria; CBS deficiency; Homocysteine; Pyridoxine responsiveness; Diagnosis

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 <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.