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Title: Diagnosis and Management of Classica Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
Authors: POLONI, SoraiaHOSS, Giovana W.SPERB-LUDWIG, FernandaBORSATTO, TacianeDORIQUI, Maria Juliana R.LEÃO, Emília K.E.ABOA-SORTE, NeyLOURENÇO, Charles M.KIM, Chong A.SOUZA, Carolina F. M. deROCHA, HelioRIBEIRO, MarciaSTEINER, Carlos E.MORENO, Carolina A.BERNARDI, PricilaVALADARES, EugeniaARTIGALAS, OsvaldoCARVALHO, GersonWANDERLEY, Hector Y. C.D’ALMEIDA, VâniaSANTANA-DA-SILVA, Luiz C.BLOM, Henk J.SCHWARTZ, Ida V. D.
Abstract: 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.
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica

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