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

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.

Open link

Publication date

February 2019

DOI

10.1177/2326409818788900.

Publisher

SAGE Publications

Journal

Journal of Inborn Errors of Metabolism and Screening

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 ...