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

• Autor(a) principal: Poloni,Soraia
• Data de Publicação: 2018
• Outros Autores: 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., Souza,Carolina F. M. de, 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.
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Journal of Inborn Errors of Metabolism and Screening
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100312
• topic: classical homocystinuria; CBS deficiency; homocysteine; pyridoxine responsiveness; diagnosis

Abstract 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.