Author(s):
POLONI, Soraia ; 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, Marcia Goncalves ; STEINER, Carlos Eduardo ; MORENO, Carolina Araujo ; BERNARDI, Pricila ; VALADARES, Eugenia 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.
Date: 2019
Origin: Oasisbr
Subject(s): Classical homocystinuria; CBS deficiency; Homocysteine; Pyridoxine responsiveness; Diagnosis
Description
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.
SILVA, L. C. S. da. Universidade Federal do Pará
