Please use this identifier to cite or link to this item: http://repositorio.ufpa.br/jspui/handle/2011/10788
metadata.dc.type: Artigo de Periódico
Issue Date: Feb-2019
metadata.dc.creator: 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.
metadata.dc.description.affiliation: SILVA, L. C. S. da. Universidade Federal do Pará
Title: Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
Citation: POLONI, Soraia et al. Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients. Journal of Inborn Errors of Metabolism and Screening, Porto Alegre, v. 6, e180007, 2018. DOI: http://dx.doi.org/10.1177/2326409818788900. Disponível em: http://repositorio.ufpa.br/jspui/handle/2011/10788. Acesso em:.
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.
Keywords: Classical homocystinuria
CBS deficiency
Homocysteine
Pyridoxine responsiveness
Diagnosis
Series/Report no.: Journal of Inborn Errors of Metabolism & Screening
ISSN: 2326-4594
metadata.dc.publisher.country: Brasil
Publisher: Latin American Society Inborn Errors and Neonatal Screening
Instituto Genética para Todos
metadata.dc.publisher.initials: SLEIMPN
IGPT
metadata.dc.rights: Acesso Aberto
metadata.dc.source.uri: http://ref.scielo.org/k3jwsf
metadata.dc.identifier.doi: http://dx.doi.org/10.1177/2326409818788900
Appears in Collections:Artigos Científicos - ICB

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