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

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art_POLONI_Diagnosis_and_Management_of_Classica_Homocystinuria_in_Brazil_2019.PDF (206.68 KB)
Citações na Scopus
3
Tipo de produção
article
Data de publicação
2019
DOI
SciELO
Scopus
Título da Revista
ISSN da Revista
Título do Volume
Editora
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
Autores
POLONI, Soraia
HOSS, Giovana W.
SPERB-LUDWIG, Fernanda
BORSATTO, Taciane
DORIQUI, Maria Juliana R.
LEÃO, Emília K.E.A
BOA-SORTE, Ney
LOURENÇO, Charles M.
SOUZA, Carolina F. M. de
Citação
JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING, v.6, n.0, p.e180007, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
classical homocystinuria, CBS deficiency, homocysteine, pyridoxine responsiveness, diagnosis
URI
https://observatorio.fm.usp.br/handle/OPI/32061
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - LIM/36